{"id":157,"date":"2024-11-07T13:06:58","date_gmt":"2024-11-07T13:06:58","guid":{"rendered":"https:\/\/asipagac.com\/?page_id=157"},"modified":"2024-11-21T23:41:50","modified_gmt":"2024-11-21T23:41:50","slug":"ga-tipo-2","status":"publish","type":"page","link":"https:\/\/asipagac.com\/en\/ga-tipo-2\/","title":{"rendered":"GA TIPO 2"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"157\" class=\"elementor elementor-157\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6033a431 e-flex e-con-boxed e-con e-parent\" data-id=\"6033a431\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-16040f17 e-con-full e-flex e-con e-child\" data-id=\"16040f17\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-13684eb elementor-widget elementor-widget-heading\" data-id=\"13684eb\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">GA TIPO 2<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f058815 elementor-widget elementor-widget-text-editor\" data-id=\"f058815\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\">Inicio &gt; Enfermedades &gt; GA TIPO 2<\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-2d427375 e-flex e-con-boxed e-con e-parent\" data-id=\"2d427375\" data-element_type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-3efb533 e-con-full e-flex e-con e-child\" data-id=\"3efb533\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-3d735c3 e-con-full e-flex e-con e-child\" data-id=\"3d735c3\" data-element_type=\"container\">\n\t\t<div class=\"elementor-element elementor-element-473b69ad e-con-full e-flex e-con e-child\" data-id=\"473b69ad\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-125136f elementor-widget elementor-widget-heading\" data-id=\"125136f\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Our professionals explain<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-450d30f8 elementor-widget elementor-widget-image\" data-id=\"450d30f8\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"200\" height=\"300\" src=\"https:\/\/asipagac.com\/wp-content\/uploads\/2024\/11\/logo-acidu-png2.png\" class=\"attachment-2048x2048 size-2048x2048 wp-image-382\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3c624ac6 elementor-widget elementor-widget-heading\" data-id=\"3c624ac6\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">La Aciduria Glut\u00e1rica tipo 2 (GA2) <\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7822cce6 elementor-widget elementor-widget-text-editor\" data-id=\"7822cce6\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">People with GA-2 have defective genes responsible for the transfer of electrons from the respiratory chain of the mitochondria (organelle of the cell that produces energy for your activity).<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-13cb0066 e-flex e-con-boxed e-con e-parent\" data-id=\"13cb0066\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-3ed6b2 elementor-widget elementor-widget-n-accordion\" data-id=\"3ed6b2\" data-element_type=\"widget\" data-settings=\"{&quot;default_state&quot;:&quot;all_collapsed&quot;,&quot;max_items_expended&quot;:&quot;one&quot;,&quot;n_accordion_animation_duration&quot;:{&quot;unit&quot;:&quot;ms&quot;,&quot;size&quot;:400,&quot;sizes&quot;:[]}}\" data-widget_type=\"nested-accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"e-n-accordion\" aria-label=\"Accordion. Open links with Enter or Space, close with Escape, and navigate with Arrow Keys\">\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4110\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"1\" tabindex=\"0\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4110\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Our professionals explain  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4110\" class=\"elementor-element elementor-element-32de0080 e-con-full e-flex e-con e-child\" data-id=\"32de0080\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-1ee5e110 elementor-widget elementor-widget-text-editor\" data-id=\"1ee5e110\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">People with GA-2 have defective genes responsible for the transfer of electrons from the respiratory chain of the mitochondria (organelle of the cell that produces energy for your activity).<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4111\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"2\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4111\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Definition <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4111\" class=\"elementor-element elementor-element-49f6bc28 e-con-full e-flex e-con e-child\" data-id=\"49f6bc28\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-3388f48 elementor-widget elementor-widget-text-editor\" data-id=\"3388f48\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>The Argininosuccinic Acidemia type 2 (GTA 2) is a rare genetic disorder that affects the metabolism of fatty acids and certain amino acids, causing a toxic buildup of organic acids in the body. This disease belongs to the Congenital Errors of the Metabolism and is also classified as a aciduria or organic aciduria dicarbox\u00edlica multiple .<\/p><p>The AGT-2 are caused by mutations in the genes encoding the flavoprotein electron transfer (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO) , two enzymes critical for cellular energy metabolism. The deficiency in these enzymes alter the process of oxidation of fatty acids and amino acids, disrupting the production of energy and generating an accumulation of toxic substances, such as long-chain fatty acids and dicarboxylic acids in the blood and tissues.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4112\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"3\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4112\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Cause <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4112\" class=\"elementor-element elementor-element-df776b5 e-con-full e-flex e-con e-child\" data-id=\"df776b5\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-30367f60 elementor-widget elementor-widget-text-editor\" data-id=\"30367f60\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">People with GA-2 have defective genes responsible for the transfer of electrons from the respiratory chain of the mitochondria (organelle of the cell that produces energy for your activity).<\/span><\/p><p><span style=\"font-weight: 400;\">Results from the deficiency or mutations in any of the three genes, <\/span><a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/ETFA\"><span style=\"font-weight: 400;\">ETFA<\/span><\/a><span style=\"font-weight: 400;\"> , <\/span><a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/ETFB\"><span style=\"font-weight: 400;\">ETFB<\/span><\/a><span style=\"font-weight: 400;\"> and <\/span><a href=\"https:\/\/ghr.nlm.nih.gov\/gene\/ETFDH\"><span style=\"font-weight: 400;\">ETFDH<\/span><\/a><span style=\"font-weight: 400;\">:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">The genes for the subunits alpha (ETFA: 15q23-q25) of the flavoprotein electron transfer ETF.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">The genes for the subunits beta (ETFB: 19q13.3-q13.4) of the flavoprotein electron transfer ETF.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">The flavoprotein dehydrogenase electronic transfer - ubiquinone oxidoreductase (ETFDH-QO: 4q32-q35).<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">People with mutations that result in a complete loss of any one of the enzymes, are likely to experience more severe symptoms.<\/span><\/p><p><span style=\"font-weight: 400;\">Mutations that allow the enzyme to retain activity may result in milder forms of the disorder.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4113\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"4\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4113\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> What happens  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4113\" class=\"elementor-element elementor-element-170bd03b e-con-full e-flex e-con e-child\" data-id=\"170bd03b\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-57f683c7 elementor-widget elementor-widget-text-editor\" data-id=\"57f683c7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">GA 2 causes of the enzymes needed to not function properly or does not occur at all. The function of these enzymes are normally active in the <\/span><a href=\"https:\/\/ghr.nlm.nih.gov\/art\/large\/cellmitochondria.jpeg\"><span style=\"font-weight: 400;\">mitochondria<\/span><\/a><span style=\"font-weight: 400;\"> (the centers of cells producing energy) is to help generate energy for the body, using the decomposition of fats and proteins from the food we eat and the stored in the body.<\/span><\/p><p><span style=\"font-weight: 400;\">These nutrients are only partially degraded, accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II.<\/span><\/p><p><span style=\"font-weight: 400;\">When you lack one of the enzymes, the body cannot break down protein and fat for energy, and must rely on glucose. In the body there is a limited amount of glucose, and when it has timed out (we don&#039;t eat for a period of time, we forget a meal or sleep), the body is using fat and proteins. Due to this failure, it does not achieve successfully, and leads to the accumulation of <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/glutaricAcid.html\"><span style=\"font-weight: 400;\">acid glut\u00e1rico<\/span><\/a><span style=\"font-weight: 400;\"> and other harmful substances in the blood. Also causes a low level of sugar in the blood, called <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/hypoglycemia.html\"><span style=\"font-weight: 400;\">hypoglycemia<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/p><p><span style=\"font-weight: 400;\">Typical illnesses of childhood can cause a formation of acid glut\u00e1rico in the body, because the body needs more energy and break down its fat and protein to get it.<\/span><\/p><p><i><span style=\"font-weight: 400;\">Defects in the pathway of the mitochondrial complex ETF\/ETF-QO that transfers electrons from the first stage of the betaoxidaci\u00f3n to the electron transport system, block the beta-oxidation of fatty acids, oxidation of branched-chain amino acids and Glutaril-CoA in the metabolic pathway of lysine, tryptophan and hidrolisina.<\/span><\/i><\/p><p><i><span style=\"font-weight: 400;\">The deficiency of acilcoenzima A dehydrogenase multiple sensitive to riboflavin is characterized, among other features, by a decrease in the ability of beta-oxidation of fatty acids. 3 protein uncoupling in muscle (UCP3; 602044 ) positively regulates in conditions that increase the levels of free fatty acid circulating and \/ or decrease the betaoxidaci\u00f3n of fatty acids. All parameters were restored to control values after treatment with riboflavin. is due to the accumulation of fatty acids in muscle \/ acylCoA.<\/span><\/i><\/p><p><span style=\"font-weight: 400;\">MADD due to mutations in ETFDH may result in myopathy, isolated with secondary deficiency of coenzyme Q10<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4114\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"5\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4114\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Prevalence  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4114\" class=\"elementor-element elementor-element-68c6d4d8 e-con-full e-flex e-con e-child\" data-id=\"68c6d4d8\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-581ba646 elementor-widget elementor-widget-text-editor\" data-id=\"581ba646\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">Glutaric acidemia type II is a very rare disorder; its precise incidence is unknown. It has been reported in several different ethnic groups. The prevalence at birth is estimated to be 1\/200.000, but there are large variations between countries and ethnic groups.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4115\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"6\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4115\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Prognosis  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4115\" class=\"elementor-element elementor-element-6c6baa5c e-con-full e-flex e-con e-child\" data-id=\"6c6baa5c\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-325802ec elementor-widget elementor-widget-text-editor\" data-id=\"325802ec\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">There is a protocol of treatment for the neonatal forms of serious, but early diagnosis and the rapid introduction of a dietary treatment (restriction of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_p#protenas\"><span style=\"font-weight: 400;\">proteins<\/span><\/a><span style=\"font-weight: 400;\"> and <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_g#grasas\"><span style=\"font-weight: 400;\">fat<\/span><\/a><span style=\"font-weight: 400;\">), <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_r#riboflavina\"><span style=\"font-weight: 400;\">riboflavin<\/span><\/a><span style=\"font-weight: 400;\"> (vitamin B2) and <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_c#coenzima_Q10\"><span style=\"font-weight: 400;\">coenzyme Q10<\/span><\/a><span style=\"font-weight: 400;\"> you can improve the prognosis, especially in the forms late and miop\u00e1ticas.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4116\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"7\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4116\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Classification  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4116\" class=\"elementor-element elementor-element-1be7393e e-con-full e-flex e-con e-child\" data-id=\"1be7393e\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-367192ad elementor-widget elementor-widget-text-editor\" data-id=\"367192ad\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">The clinical picture of GA II according to the genetic defect is indistinguishable; as each defect can lead to mild or severe.<\/span><\/p><p><span style=\"font-weight: 400;\">According to the clinical features are divided into:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Neonatal onset: usually very serious, are characterized by hypoglycemia is not ketotic serious (the descent of the <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_g#glucosa\"><span style=\"font-weight: 400;\">glucose<\/span><\/a><span style=\"font-weight: 400;\"> in the blood without <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_c#cuerpos_cetnicos\"><span style=\"font-weight: 400;\">ketone bodies<\/span><\/a><span style=\"font-weight: 400;\">), <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_a#acidosis\"><span style=\"font-weight: 400;\">acidosis<\/span><\/a><span style=\"font-weight: 400;\"> metabolic <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_a#afectacin_multisistmica\"><span style=\"font-weight: 400;\">involvement multisystem<\/span><\/a><span style=\"font-weight: 400;\"> and excretion of large amounts of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_m#metabolitos\"><span style=\"font-weight: 400;\">metabolites<\/span><\/a><span style=\"font-weight: 400;\"> derivatives of fatty acids and amino acids.<\/span><ul><li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">TYPE I: with congenital anomalies (such as the <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_d#dismorfia\"><span style=\"font-weight: 400;\">dysmorphia<\/span><\/a><span style=\"font-weight: 400;\"> facial, indicating that the effect is already prenatal).<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"2\"><span style=\"font-weight: 400;\">TYPE II: without congenital anomalies.<\/span><\/li><\/ul><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Late-onset type III. The symptoms and the age of presentation are highly variable (juvenile, adult) and is characterized by recurrent episodes of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_l#letargia\"><span style=\"font-weight: 400;\">lethargy<\/span><\/a><span style=\"font-weight: 400;\">, vomiting, hypoglycemia, metabolic acidosis, and <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_h#hepatomegalia\"><span style=\"font-weight: 400;\">hepatomegaly <\/span><\/a><span style=\"font-weight: 400;\">often preceded by metabolic stress and by a <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_d#descompensacin_metablica\"><span style=\"font-weight: 400;\">metabolic decompensation<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Myopathic Type , of late presentation sometimes in adulthood, which causes muscle pain, weakness, exercise intolerance, and myopathy (muscle injury) by deposit of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_l#lpidos\"><span style=\"font-weight: 400;\">lipids<\/span><\/a><span style=\"font-weight: 400;\">. It is often intermittent and is only evident in periods of disease or catabolic stress.<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">It is important to note that it has been shown that treatment with riboflavin improves symptoms and metabolic profiles in many patients, particularly those with type III, the late onset and milder form.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4117\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"8\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4117\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Symptoms  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4117\" class=\"elementor-element elementor-element-5d9e2ea8 e-con-full e-flex e-con e-child\" data-id=\"5d9e2ea8\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-2c866bb8 elementor-widget elementor-widget-text-editor\" data-id=\"2c866bb8\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">The symptoms of GA-2 may be very different from person to person. May appear in the period of the newborn or late in childhood, youth and adulthood.<\/span><\/p><p><span style=\"font-weight: 400;\">Some babies have their first symptoms shortly after birth.<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Rapid breathing<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Hypotonia<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Metabolic crisis<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Smell feet &#034;sweaty&#034;<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Heart problems, and liver problems.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Congenital malformations<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Comma<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">If the symptoms occur late, can start at any time from early childhood to adulthood.<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Intermittent States (cyclic vomiting)<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Nausea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Vomiting<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Muscle weakness, hypotonia<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Periods of hypoglycemia (weak, shaky or dizzy with cold, clammy skin)<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Metabolic crisis<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Hypoglycemia and metabolic crisis may occur:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">After exercise<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">After intake of high amount of protein<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">A lot of time in fasting<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">During illness or infection<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Deficit <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/l_carnitine.html\"><span style=\"font-weight: 400;\">carnitine<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Involuntary movements<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Some people with GA-2 never have any symptoms, and only affected after they are diagnosed with a brother or sister.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4118\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"9\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4118\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Treatments  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4118\" class=\"elementor-element elementor-element-adadb76 e-con-full e-flex e-con e-child\" data-id=\"adadb76\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-21d80e2a elementor-widget elementor-widget-text-editor\" data-id=\"21d80e2a\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">A small number of newborns with the neonatal type have shown positive effects to the treatment.<\/span><\/p><p><span style=\"font-weight: 400;\">In the late onset type with prompt treatment and care, children and adults with GA-2 generally live healthy lives with a normal growth and development.<\/span><\/p><p><span style=\"font-weight: 400;\">The goal of treatment is to prevent long-term problems. However, children who have metabolic crisis metabolic may develop learning problems for life.<\/span><\/p><p><span style=\"font-weight: 400;\">The treatment is usually needed during the entire life, it is usually individualized, adapted to the characteristics and needs of each child.<\/span><\/p><ol><li><span style=\"font-weight: 400;\"> Avoid going too long without eating: they need to eat frequently to prevent hypoglycemia or a metabolic crisis.  Your doctor will tell you how often you need to feed your child. It is important that infants be fed during the night. It is possible that you need to wake them up to eat if they do not wake up alone. Metabolic specialists will provide you with a protocol of appropriate nourishment  for the baby. Your doctor will also explain the \"emergency regimen\" during illness or other occasions that your child does not eat.<\/span><\/li><\/ol><p><span style=\"font-weight: 400;\">Your metabolic expert should continue advising you on the frequency with which your child should eat as it grows.<\/span><\/p><ol start=\"2\"><li><span style=\"font-weight: 400;\"> Diet<\/span><span style=\"font-weight: 400;\"><br \/><\/span><span style=\"font-weight: 400;\">Usually a low fat diet is recommended , low in protein and high in <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/carbohydrate.html\"><span style=\"font-weight: 400;\">carbohydrates<\/span><\/a><span style=\"font-weight: 400;\"> that<\/span><span style=\"font-weight: 400;\"> give the body the sugar to get the energy they need (bread, cereal, pasta, fruit, vegetables). You should not remove all the fat and protein of the diet, as is needed for the growth and development. But as we've said before, the treatment, including diet, should be adapted to the individual characteristics.<\/span><\/li><\/ol><p><span style=\"font-weight: 400;\">The specialists will create a diet that meets the needs of your child.<\/span><\/p><p><span style=\"font-weight: 400;\">3 - Riboflavin: it is associated with clinical improvement. This is a type of B vitamin (vitamin B2). It helps to convert carbohydrates, proteins and fats into energy for the body.<\/span><\/p><p><span style=\"font-weight: 400;\">4 - Carnitine-helps the body to generate energy from fat in the food and fat stored in the body. It also helps to rid cells of waste harmful produced during the decomposition of fat. Supplements of carnitine can be used as a treatment for some metabolic disorders.<\/span><\/p><ol start=\"5\"><li><span style=\"font-weight: 400;\"> Call your doctor at the beginning of any disease.<\/span><\/li><\/ol><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Poor appetite<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Low energy or extreme drowsiness<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Vomiting<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diarrhea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Infection<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Fever<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">During an illness or infection, children with GA-2 have a much higher chance of developing hypoglycemia or a crisis metabolic. Need to drink liquids and eat carbohydrates extra when they are sick, even if they are not hungry, or they may have a crisis metabolic.<\/span><\/p><p><span style=\"font-weight: 400;\">Children who are sick often don&#039;t want to eat. If they can&#039;t eat, or if they show signs of hypoglycaemia or a crisis metabolic, they may need to be treated in the hospital. Ask your doctor about the metabolic whether you should carry a special letter to travel with medical instructions for the care of your child.<\/span><\/p><p><span style=\"font-weight: 400;\">The treatment of the more severe phenotypes consists in the restriction of fats and proteins and the adoption of a diet rich in carbohydrates. It is essential to strictly avoid fasting and other types of attacks precipitant. You must have regimes of urgency to any decompensation, metabolic.<\/span><\/p><p><span style=\"font-weight: 400;\">It is also observed a positive effect of supplementation with Coenzyme Q10.\u00a0\u00a0<\/span><\/p><p><span style=\"font-weight: 400;\">For cases of moderately severe has used 3-hydroxybutyrate with success, but further studies will be necessary in this regard.<\/span><\/p><p><span style=\"font-weight: 400;\">Do not use any supplement without consulting your specialist.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-4119\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"10\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-4119\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Complications  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-4119\" class=\"elementor-element elementor-element-4fe9e5f2 e-con-full e-flex e-con e-child\" data-id=\"4fe9e5f2\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-260a63c9 elementor-widget elementor-widget-text-editor\" data-id=\"260a63c9\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">Can cause <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/metabolicCrisis.html\"><span style=\"font-weight: 400;\">crisis metabolic<\/span><\/a><span style=\"font-weight: 400;\">. Some of the first symptoms of a crisis metabolic are:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Extreme drowsiness<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Behavior changes<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Irritable mood<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Muscle weakness<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Poor appetite<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">Other symptoms are followed:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Fever<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Nausea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diarrhea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Vomiting<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Hypoglycemia<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Increased levels of acidic substances in the blood, called <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/metabolicAcidosis.html\"><span style=\"font-weight: 400;\">metabolic acidosis<\/span><\/a><\/li><\/ul><p><span style=\"font-weight: 400;\">If this is not a crisis metabolic, a child with a GA-2 can develop:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Breathing problems<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/seizures.html\"><span style=\"font-weight: 400;\">Seizures<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/coma.html\"><span style=\"font-weight: 400;\">Comma<\/span><\/a><span style=\"font-weight: 400;\">sometimes leads to the death<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">GA2 may cause <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/metabolicCrisis.html\"><span style=\"font-weight: 400;\">crisis metabolic<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/p><p><span style=\"font-weight: 400;\">Some of the first symptoms of a crisis metabolic are:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Extreme drowsiness<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Behavior changes<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Irritable mood<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Muscle weakness<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Poor appetite<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Fever<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Nausea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diarrhea<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Vomiting<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Hypoglycemia<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Increased levels of acidic substances in the blood, called <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/metabolicAcidosis.html\"><span style=\"font-weight: 400;\">metabolic acidosis<\/span><\/a><\/li><\/ul><p><span style=\"font-weight: 400;\">If this is not a crisis metabolic, a child with a GA-2 can develop:<\/span><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Breathing problems<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/seizures.html\"><span style=\"font-weight: 400;\">Seizures<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/coma.html\"><span style=\"font-weight: 400;\">Comma<\/span><\/a><span style=\"font-weight: 400;\">sometimes leads to the death<\/span><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-41110\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"11\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-41110\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Diagnosis  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-41110\" class=\"elementor-element elementor-element-7e516d50 e-con-full e-flex e-con e-child\" data-id=\"7e516d50\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-4aef1ae9 elementor-widget elementor-widget-text-editor\" data-id=\"4aef1ae9\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><b>PRE-SYMPTOMATIC DIAGNOSIS: <\/b><span style=\"font-weight: 400;\">The newborn screening or testing of the heel for help at the start of adequate treatment, which prevents many of the irregularities and its potential sequelae. It is available in several european countries, but still there is not enough experience in spite of this, due to the low number of cases.The study of the <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_m#mutaciones\"><span style=\"font-weight: 400;\">mutations<\/span><\/a><span style=\"font-weight: 400;\"> in the genes coding for the \u03b1 and \u03b2 subunits of the <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_g#gen\"><span style=\"font-weight: 400;\">gene<\/span><\/a> <i><span style=\"font-weight: 400;\">ETFA\/ETFB <\/span><\/i><span style=\"font-weight: 400;\">and<\/span><i><span style=\"font-weight: 400;\"> ETF-QO <\/span><\/i><span style=\"font-weight: 400;\">confirms the diagnosis.The GA-2 can be confirmed by tests carried out on samples of blood, urine, or skin.\u2013 <\/span><i><span style=\"font-weight: 400;\">In the blood is observed an increase of acylcarnitines of C4-C18, can present a severe decrease of carnitine.\u2013 Usually the analysis of organic acids in urine reveals increments of combinations of dicarboxylic acids, acid glut\u00e1rico, acid etilmal\u00f3nico, 2-hidroxiglutarato and glycine.\u2013 The flow-oxidative fatty acids in fibroblasts (puncture of the skin) and the analysis of acylcarnitine in fibroblasts after incubation with palmitic acid tend to be anomalous.<\/span><\/i><span style=\"font-weight: 400;\">DIAGNOSIS of SYMPTOMATIC: it is performed on the basis of clinical presentation: the concentration of glucose in the blood is low, with absence of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_c#cuerpos_cetnicos\"><span style=\"font-weight: 400;\">ketone bodies<\/span><\/a><span style=\"font-weight: 400;\">, <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_a#acidosis_lctica\"><span style=\"font-weight: 400;\">lactic acidosis<\/span><\/a><span style=\"font-weight: 400;\"> and a deficiency of <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_c#carnitina\"><span style=\"font-weight: 400;\">carnitine<\/span><\/a><span style=\"font-weight: 400;\">, increase in times of liver enzymes and creatin kinase. In the late is observed in the <\/span><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/glosario\/letter_d#descompensacin_metablica\"><span style=\"font-weight: 400;\">decompensation metabolic<\/span><\/a><span style=\"font-weight: 400;\">.<\/span><\/p><p><span style=\"font-weight: 400;\">PRENATAL DIAGNOSIS: it Is possible to make a prenatal diagnosis when we have identified two pathogenic mutations in the family.<\/span><\/p><p><b>DIFFERENTIAL DIAGNOSIS:<\/b><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Polycystic kidney disease, autosomal recessive<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Carnitine deficiency palmito\u00edl-transferase II<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Syndrome of Zellweger<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Alterations in the biosynthesis of sterols<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">GENETIC counseling: Is inherited as a autosomal recessive, and there is the possibility of genetic counselling.<\/span><\/p><p><span style=\"font-weight: 400;\">If you have found both genetic changes in your child, you may perform DNA testing during future pregnancies. The sample needed for this test is obtained by chorionic villus sampling or <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/amniocentesis.html\"><span style=\"font-weight: 400;\">amniocentesis<\/span><\/a><span style=\"font-weight: 400;\"> .<\/span><\/p><p><span style=\"font-weight: 400;\">If the DNA tests are not useful, they may perform a test of enzymes in the cells of the fetus. The sample needed for this test is obtained by amniocentesis.<\/span><\/p><p><span style=\"font-weight: 400;\">Parents can choose to be tested during pregnancy or wait until the birth to the baby to be examined. A specialist in genetics can explain your options and to answer questions about prenatal testing or the testing of your baby after birth<\/span><b>.<\/b><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-41111\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"12\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-41111\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> How it is inherited  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-41111\" class=\"elementor-element elementor-element-2d4d6dbd e-con-full e-flex e-con e-child\" data-id=\"2d4d6dbd\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-40a00aa9 elementor-widget elementor-widget-text-editor\" data-id=\"40a00aa9\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"font-weight: 400;\">GA-2 is inherited in an <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/autosomalRecessive.html\"><span style=\"font-weight: 400;\">autosomal recessive.<\/span><\/a><\/p><p><span style=\"font-weight: 400;\">We all have a pair of genes that produce the enzyme ETF and another pair that produces the enzyme ETF: QO.<\/span><\/p><p><span style=\"font-weight: 400;\">In children with GA-2, the gene pair for one of these enzymes is not working properly. These children inherit one non-working gene for the condition from each parent.<\/span><\/p><p><span style=\"font-weight: 400;\">A person must inherit two copies mutated in the same gene (one copy of the mutation from each parent) to develop the disease. If a person inherits a mutated copy of a gene and one normal, in most cases it will be a healthy person, carrier, because, the normal copy is going to compensate for the mutated. Be a person, a carrier means that you do not have the disease, but that has a mutated copy of the gene of the pair of genes.<\/span><\/p><p><span style=\"font-weight: 400;\">Parents of children with GA-2 usually do not have the disorder; but each parent has a single gene is not functional for GA-2, are <\/span><a href=\"http:\/\/www.newbornscreening.info\/GlossaryTerms\/carrier.html\"><span style=\"font-weight: 400;\">carriers<\/span><\/a><span style=\"font-weight: 400;\"> . Carriers do not have a deficiency of GA-2 because the other gene of this pair is working correctly.<\/span><\/p><p><span style=\"font-weight: 400;\">If both parents are carriers of the same mutation of the gene, it can pass on the mutated gene or the normal to their offspring, and this is going to happen at random. If both parents are carriers of the same mutation of the gene can pass on the mutated gene or the normal to their children and this is going to happen at random.<\/span><\/p><p><b>Each one of the children of parents are carriers of the same mutation gene have a 25% chance (1 of 4 possibilities) of inheriting the mutation from both parents and developing the disease.<\/b><span style=\"font-weight: 400;\"> This also means that there is a 75% chance (3 out of 4 possibilities) that the child is not affected by the disease. <\/span><b>This probability remains the same in every pregnancy and in children or girls.<\/b><\/p><ul><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">In addition, there is a 25% chance (2 out of 4 possibilities) that the child will inherit one copy of the mutated gene from one of their parents, so they will be healthy but the bearer such as their parents.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Finally, there is a 25% chance (1 of 4 possibilities) that the child inherits both copies of the normal gene. In this case the child will not be suffering the disease, or be a carrier.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">These possible outcomes happen at random. The probability remains the same in every pregnancy and between boys and girls.<\/span><\/li><\/ul><p><span style=\"font-weight: 400;\">The brothers and sisters of a baby with a GA-2 have the potential to be carriers or have the disease, even if they have not shown symptoms. It is important to detect because early treatment can prevent serious health problems.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-41112\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"13\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-41112\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Protocols and guidelines  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-41112\" class=\"elementor-element elementor-element-7118d78d e-con-full e-flex e-con e-child\" data-id=\"7118d78d\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-7448637f elementor-widget elementor-widget-text-editor\" data-id=\"7448637f\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>\u00a0Treatment standard MAD<\/strong><\/p><p>LINK: <a href=\"https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/10\/TRATAMIENTO-ESTANDAR-MAD.pdf\">https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/10\/TRATAMIENTO-ESTANDAR-MAD.pdf<\/a><\/p><p><strong>Treatment of decompensation MAD<\/strong><\/p><p>LINK:<\/p><p><a href=\"https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/10\/TRATAMIENTO-EN-DESCOMPENSACI%C3%93N-MAD.pdf\">https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/10\/TRATAMIENTO-EN-DESCOMPENSACI%C3%93N-MAD.pdf<\/a><\/p><p><strong>Protocol GA2 2008 BIMDG<\/strong><\/p><p>LINK:<\/p><p><a href=\"https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/11\/PROTOCOLO-GA2-2008-BIMDG.pdf\">https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/11\/PROTOCOLO-GA2-2008-<b>BIMDG.pdf<\/b><\/a><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t\t<details id=\"e-n-accordion-item-41113\" class=\"e-n-accordion-item\" >\n\t\t\t\t<summary class=\"e-n-accordion-item-title\" data-accordion-index=\"14\" tabindex=\"-1\" aria-expanded=\"false\" aria-controls=\"e-n-accordion-item-41113\" >\n\t\t\t\t\t<span class='e-n-accordion-item-title-header'><div class=\"e-n-accordion-item-title-text\"> Bibliography  <\/div><\/span>\n\t\t\t\t\t\t\t<span class='e-n-accordion-item-title-icon'>\n\t\t\t<span class='e-opened' ><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-minus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h384c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t\t<span class='e-closed'><svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-plus\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M416 208H272V64c0-17.67-14.33-32-32-32h-32c-17.67 0-32 14.33-32 32v144H32c-17.67 0-32 14.33-32 32v32c0 17.67 14.33 32 32 32h144v144c0 17.67 14.33 32 32 32h32c17.67 0 32-14.33 32-32V304h144c17.67 0 32-14.33 32-32v-32c0-17.67-14.33-32-32-32z\"><\/path><\/svg><\/span>\n\t\t<\/span>\n\n\t\t\t\t\t\t<\/summary>\n\t\t\t\t<div role=\"region\" aria-labelledby=\"e-n-accordion-item-41113\" class=\"elementor-element elementor-element-618fd73a e-con-full e-flex e-con e-child\" data-id=\"618fd73a\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-189f7be7 elementor-widget elementor-widget-text-editor\" data-id=\"189f7be7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<ul><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.omim.org\/entry\/231680\"><span style=\"font-weight: 400;\">OMIM<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"http:\/\/evm.health2media.com\/#\/detail-view\/disorder\/2\/101\"><span style=\"font-weight: 400;\">VADEMECUM METABOLICUM<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.rarecommons.org\/es\"><span style=\"font-weight: 400;\">RARE COMMONS<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.newbornscreening.info\/spanish\/parent\/Organic_acid\/GA2.html\"><span style=\"font-weight: 400;\">NEWBORNSCREENING INFO<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/ghr.nlm.nih.gov\/condition\/glutaric-acidemia-type-ii#definition\"><span style=\"font-weight: 400;\">NIH<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/metabolicas.sjdhospitalbarcelona.org\/sites\/default\/files\/deficiencia_mad_es.pdf\"><span style=\"font-weight: 400;\">Guide Metabolic<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.rarecommons.org\/es\/actualidad\/es-herencia-autosomica-recesiva\"><span style=\"font-weight: 400;\">Rare Commons<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Diagnosis and treatment of diseases hereditary metabolic Pablo Sanjurjo, Antonio Baldellou 4\u00aaEdici\u00f3n<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Angle B, Burton BK. Risk of sudden death and acute events that threaten life in patients with glutaric acidemia type II. Mol Genet Metab. 2008 jan; 93 (1): 36-9. Epub 2007 oct 31.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17977044\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. Molecular mechanisms of the response of riboflavin in patients with variations of ETF-QO and deficiency multiple dehydrogenation of acyl-CoA. Hum Mol Genet. 2012 August 1; 21 (15): 3435-48. doi: 10.1093 \/ hmg \/ dds175. Epub 2012 may 18.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22611163\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Curcoy A, Olsen RK, Ribes A, trench coats V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. delayed Form of the deficiency of flavoprotein by transfer of electrons beta. Mol Genet Metab. 2003 apr; 78 (4): 247-9.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12706375\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia type II: structure and gene mutations in the flavoprotein electron transfer: gene ubiquinone oxidoreductase (ETF: QO). Mol Genet Metab. 2002 Sep-Oct; 77 (1-2): 86-90.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12359134\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between the genotype and the phenotype of ETF \/ ETFDH in patients with deficiency of dehydrogenation of acyl-CoA multiple. Hum Mutat. 2003 Jul; 22 (1): 12-23.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12815589\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. Mutations in ETFDH as one of the main causes of the deficiency of dehydrogenation of acyl-CoA multiple sensitive to riboflavin. Brain. 2007 Aug; 130 (Pt 8): 2045-54. Epub 2007 June 20.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17584774\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. Myopathy of lipid storage and respiratory failure by mutations of ETFQO in a patient with deficiency of dehydrogenation of acyl-CoA late-onset. J Inherit Metab Dis. 2004; 27 (5): 671-8.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15669683\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Purevjav E, Kimura M, Takusa And, Ohura T, Tsuchiya M, Hara N, Fukao T, Yamaguchi S. molecular Study of the electron transfer flavoprotein deficiency of the alpha-subunit in two japanese children with different phenotypes of glutaric acidemia type II. Eur J Clin Invest. 2002 Sep; 32 (9): 707-12.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12486872\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban, C. Deficiency of flavoprotein electronic transfer: functional aspects and molecular. Mol Genet Metab. 2006 Jun; 88 (2): 153-8. Epub 2006 February 28.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/16510302\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Takken T, Custers J, Visser G, Dorland L, Helders P, de Koning, T. Evidence of prolonged exercise on two children with a mild deficiency of acyl-CoA-dehydrogenase multiple. Nutr Metab (Lond). 2005 may 20; 2 (1): 12.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/15907213\"><span style=\"font-weight: 400;\">Citation in PubMed<\/span><\/a><span style=\"font-weight: 400;\"> or <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1159171\/\"><span style=\"font-weight: 400;\">free article on PubMed Central<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5874208\/\"><span style=\"font-weight: 400;\">Heterogeneous Phenotypes in Lipid Storage Myopathy Due to <\/span><i><span style=\"font-weight: 400;\">ETFDH<\/span><\/i><span style=\"font-weight: 400;\"> Gene Mutations Corrado Angelini, Daniela Tavian, [...], and Johannes Zschocke\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23727839\"><span style=\"font-weight: 400;\">Secondary deficiency of coenzyme Q10 and oxidative stress in cultured fibroblasts of patients with deficiency of dehydrogenation of Acyl-CoA multiple sensitive to riboflavin.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><\/a><span style=\"font-weight: 400;\">Cornelius N , Byron C , Hargreaves I , War, PF , Furdek AK , Land J , Radford WW , Frerman F , Corydon TJ , Gregersen N , Olsen RK .<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23628458\"><span style=\"font-weight: 400;\">Increase of the coenzyme muscle coenzyme Q10 MADD sensitive to riboflavin with gene mutations in ETFDH due to the proliferation mitochondrial secondary. <\/span><\/a><span style=\"font-weight: 400;\">Wen B <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Li D , Shan J , Liu S , Li W , Zhao Y , Lin P , Zheng J , Li D , Gong Y , Yan C .<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19249206\"><span style=\"font-weight: 400;\">Mutations in ETFDH, CoQ10 levels and activities of the respiratory chain in patients with deficiency, multiple acyl-CoA dehydrogenase deficiency responsive to riboflavin. Liang WC <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Ohkuma A , Hayashi YK , L\u00f3pez LC , Hirano M , Nonaka I , Noguchi S , Chen LH , Jong YJ , Nishino I .<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/20937244\"><span style=\"font-weight: 400;\">The flavoprotein electronic transfer: ubiquinone oxidoreductases. <\/span><\/a><span style=\"font-weight: 400;\">Watmough NJ <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Frerman FE .<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24522293\"><span style=\"font-weight: 400;\">Deficiency of dehydrogenation of Acyl-CoA multiple sensitive to riboflavin in 13 cases, and a review of the literature in patients from mainland China. <\/span><\/a><span style=\"font-weight: 400;\">Zhu M <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Zhu X <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Qi X <\/span><span style=\"font-weight: 400;\">2<\/span><span style=\"font-weight: 400;\"> , Weijiang D <\/span><span style=\"font-weight: 400;\">2<\/span><span style=\"font-weight: 400;\"> , Yu And <\/span><span style=\"font-weight: 400;\">1<\/span><span style=\"font-weight: 400;\"> , Wan H , Hong D.<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4908180\/pdf\/main.pdf\"><span style=\"font-weight: 400;\">Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency<\/span><\/a><span style=\"font-weight: 400;\"> Rikke K. J. Olsen<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28433476\"><span style=\"font-weight: 400;\">Patient with deficiency disease of dehydrogenation of acyl-CoA and multiple mutations FLAD1 benefits of the therapy with riboflavin.<\/span><span style=\"font-weight: 400;\"><br \/><\/span><\/a><span style=\"font-weight: 400;\">Auranen M<\/span><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/19265687\"><span style=\"font-weight: 400;\">New gene mutations in ETFDH in chinese patients with deficiency, multiple acyl-CoA dehydrogenase sensitive to riboflavin<\/span><span style=\"font-weight: 400;\"><br \/><\/span><\/a><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Law%20LK%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=19265687\"><span style=\"font-weight: 400;\">Law LK\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/12815589\"><span style=\"font-weight: 400;\">Clear relationship between genotype ETF \/ ETFDH and phenotype in patients with deficiency of multiple dehydrogenation of acyl-CoA<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Olsen%20RK%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=12815589\"><span style=\"font-weight: 400;\">Olsen RK<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5883299\/pdf\/12920_2018_Article_356.pdf\"><span style=\"font-weight: 400;\">Patient with disease-deficiency of acyl-CoA dehydrogenase deficiency and mutations in ETFDH benefits of therapy with riboflavin: a case report<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Goh%20LL%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=29615056\"><span style=\"font-weight: 400;\">Goh LL<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27000805\"><span style=\"font-weight: 400;\">Significant clinical heterogeneity with genotype ETFDH similar in three chinese patients with deficiency, multiple acyl-CoA dehydrogenase deficiency of late-onset Fu HX<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6031868\/pdf\/main.pdf\"><span style=\"font-weight: 400;\">New mutations <\/span><i><span style=\"font-weight: 400;\">ETFDH<\/span><\/i><\/a><span style=\"font-weight: 400;\"> in four cases of deficiency, multiple acyl-CoA dehydrogenase sensitive to riboflavin <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Fan%20X%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=29988809\"><span style=\"font-weight: 400;\">Fan X\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/watermark.silverchair.com\/dds175.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAhcwggITBgkqhkiG9w0BBwagggIEMIICAAIBADCCAfkGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMUoVF2ZmJrM5AuYFAAgEQgIIBysDOm7904FGcC2vrNuiMVgwn0tInFY42F9J42d-PJrTzPZghzIr80FP72FBAt_VbqH-xUn5_cIdYAnrgVMlsVBvNATolQP4I5gVy5xczBFctc1zurpBNBISHz5AcDq6Of8kvPYTJWbioReF5n7qMgnq63teG6b9eR_0emxasdqpbu1pAJT1nYuQoqTxmppR4sn7dwMa2n0S93QIUPEZdiHDcb3aIabOlsbfBncgHVjjGErvOCYcCkPzxfPAKU2Rrh9osg714q4wjqtHZ1gVmh7YJm0XQ9DMrRBW69F7e7O-Y8lac0x5trf2cdaocNyQkoJi_z_RW6Kv-3l-WWi0XwNeGxtTkLptOnXYnrxdtki_GpODG9cftgvgxoKd1DO6Zm6APmrZnccrls-vuUUUhe0zIm25-A6YoobHkn2V3O9NSwWhepGs3OoPVeUeK0HFdLEEBDWeFqXZF-pntvA5SbZEpMGDpkqY3Eq-lx4vYv5d5z8ykEjmHa3jsdh5M89n-bTj4Bm20UQ9rrJIr3NLE2FDQNYWGXj1Tq3-z_b-Y6AMEBzfKYQPD-_SdMJyr7Nd8EGid18e2bkfYCyBaqdtlo469MNsDoyDSJfRR\"><span style=\"font-weight: 400;\">Molecular mechanisms of the response to riboflavin in patients with variations of ETF-QO and deficiency multiple dehydrogenation of acyl-CoA <\/span><\/a><span style=\"font-weight: 400;\">\u00a0<\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Cornelius%20N%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=22611163\"><span style=\"font-weight: 400;\">Cornelius N<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4513616\/pdf\/12883_2015_Article_380.pdf\"><span style=\"font-weight: 400;\">The syndrome of the vertebral column as an initial manifestation of the deficiency of acyl-CoA dehydrogenase of late onset: a case report and a review of the literature<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Peng%20Y%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=26205240\"><span style=\"font-weight: 400;\">Peng And<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26821934\"><span style=\"font-weight: 400;\">Sensory neuropathy severe in patients with deficiency, multiple acyl-CoA dehydrogenase start in adults<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Wang%20Z%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=26821934\"><span style=\"font-weight: 400;\">Wang Z<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25556768\"><span style=\"font-weight: 400;\">Myopathy booster for storage of lipids due to the deficiency of acyl-coenzyme a dehydrogenase<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Whitaker%20CH%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=25556768\"><span style=\"font-weight: 400;\">Whitaker CH<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/50\/21\/50_21_2663\/_pdf\/-char\/en\"><span style=\"font-weight: 400;\">A case of deficiency, multiple acyl-CoA dehydrogenase sensitive to riboflavin late-onset manifested as rhabdomyolysis, recurrent and acute renal failure<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Izumi%20R%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=22041377\"><span style=\"font-weight: 400;\">Izumi R<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4222585\/pdf\/s13023-014-0117-5.pdf\"><span style=\"font-weight: 400;\">Clinical and genetic heterogeneity of the deficiency of acyl-coenzyme A dehydrogenase deficiency, multiple late-onset<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Gr%C3%BCnert%20SC%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=25200064\"><span style=\"font-weight: 400;\">Gr\u00fcnert SC<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22190129\"><span style=\"font-weight: 400;\">Deficiency of acyl-CoA dehydrogenase sensitive to riboflavin with genetic defect unknown<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Cotelli%20MS%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=22190129\"><span style=\"font-weight: 400;\">Cotelli MS\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27000805\"><span style=\"font-weight: 400;\">Significant clinical heterogeneity with genotype ETFDH similar in three chinese patients with deficiency, multiple acyl-CoA dehydrogenase deficiency of late-onset <\/span><\/a><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Fu%20HX%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=27000805\"><span style=\"font-weight: 400;\">Fu HX\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17584774\"><span style=\"font-weight: 400;\">Mutations in ETFDH as the main cause of deficiency of dehydrogenation of acyl-CoA multiple sensitive to riboflavin <\/span><\/a><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Olsen%20RK%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=17584774\"><span style=\"font-weight: 400;\">Olsen RK\u00a0<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28433476\"><span style=\"font-weight: 400;\">Patient with deficiency disease of dehydrogenation of acyl-CoA and multiple mutations FLAD1 benefits of the therapy with riboflavin<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Auranen%20M%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=28433476\"><span style=\"font-weight: 400;\">Auranen M<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22041377\"><span style=\"font-weight: 400;\">A case of deficiency, multiple acyl-CoA dehydrogenase sensitive to riboflavin late-onset manifested as rhabdomyolysis, recurrent, and kidney failure agud<\/span><\/a><span style=\"font-weight: 400;\">to <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Izumi%20R%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=22041377\"><span style=\"font-weight: 400;\">Izumi R<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26821934\"><span style=\"font-weight: 400;\">Sensory neuropathy severe in patients with deficiency, multiple acyl-CoA dehydrogenase start in adults<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Wang%20Z%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=26821934\"><span style=\"font-weight: 400;\">Wang Z<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28914566\"><span style=\"font-weight: 400;\">A new mutation in ETFDH in an adult patient with deficiency, multiple acyl-CoA dehydrogenase sensitive to riboflavin late-onset<\/span><span style=\"font-weight: 400;\"><br \/><\/span><\/a><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Chen%20M%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=28914566\"><span style=\"font-weight: 400;\">Chen M<\/span><\/a><\/li><li style=\"font-weight: 400;\" aria-level=\"1\"><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4799539\/pdf\/CMJ-129-142.pdf\"><span style=\"font-weight: 400;\">A cohort study historical on the efficacy of glucocorticoids and riboflavin in patients with deficiency, multiple acyl-CoA dehydrogenase deficiency of late-onset<\/span><\/a> <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Liu%20XY%5BAuthor%5D&amp;cauthor=true&amp;cauthor_uid=26830983\"><span style=\"font-weight: 400;\">Liu XY<\/span><\/a><\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/details>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-be31128 e-flex e-con-boxed e-con e-parent\" data-id=\"be31128\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-4c2f7dd6 e-con-full e-flex e-con e-child\" data-id=\"4c2f7dd6\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-167019b9 elementor-widget elementor-widget-text-editor\" data-id=\"167019b9\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>El protocolo de emergencia es el componente mas importante en la estrategia de tratamiento. Preg\u00fantele al medico especialista si su hijo debe llevar consigo unas recomendaciones medicas sobre su tratamiento .<br \/>No use ning\u00fan medicamento sin antes consultar con su medico especialista en metabolismo.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-53552e4e elementor-align-center elementor-widget elementor-widget-button\" data-id=\"53552e4e\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/www.familiasga.com\/wp-content\/uploads\/2018\/11\/PROTOCOLO-GA2-2008-BIMDG.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon\">\n\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-arrow-right\" viewbox=\"0 0 448 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M190.5 66.9l22.2-22.2c9.4-9.4 24.6-9.4 33.9 0L441 239c9.4 9.4 9.4 24.6 0 33.9L246.6 467.3c-9.4 9.4-24.6 9.4-33.9 0l-22.2-22.2c-9.5-9.5-9.3-25 .4-34.3L311.4 296H24c-13.3 0-24-10.7-24-24v-32c0-13.3 10.7-24 24-24h287.4L190.9 101.2c-9.8-9.3-10-24.8-.4-34.3z\"><\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">M\u00e1s Informaci\u00f3n<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-144274a6 e-flex e-con-boxed e-con e-parent\" data-id=\"144274a6\" data-element_type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-49c7a664 elementor-widget elementor-widget-text-editor\" data-id=\"49c7a664\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\">El tratamiento de emergencia es el componente m\u00e1s importante de la estrategia de tratamiento. Dado que la lesi\u00f3n estriatal aguda ocurre o insidiosamente hasta los 6 a\u00f1os de edad, las recomendaciones de tratamientos para el mantenimiento y el tratamiento de emergencia son estrictas para los pacientes mayores de 6 a\u00f1os de edad.\u00a0<\/span><\/span><\/p><p><strong><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\">Preg\u00fantele al m\u00e9dico especialista si su hijo debe llevar consigo unas recomendaciones m\u00e9dicas sobre su tratamiento.<\/span><\/span><\/strong><\/p><p><strong><span style=\"vertical-align: inherit;\"><span style=\"vertical-align: inherit;\">No use ning\u00fan medicamento sin antes consultar con su m\u00e9dico especialista en metabolismo.\u00a0<\/span><\/span><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-6ea0ad3 e-flex e-con-boxed e-con e-parent\" data-id=\"6ea0ad3\" data-element_type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-5110162 e-con-full e-flex e-con e-child\" data-id=\"5110162\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-8acf9d6 elementor-widget elementor-widget-heading\" data-id=\"8acf9d6\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">All help is Welcome<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-fd0f104 elementor-widget elementor-widget-text-editor\" data-id=\"fd0f104\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><em>Tu participaci\u00f3n, por peque\u00f1a que sea, es muy importante y puede a\u00f1adir mucho valor para mejorar la vida de los afectados y sus familias<\/em><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-bbd5e59 e-con-full e-flex e-con e-child\" data-id=\"bbd5e59\" data-element_type=\"container\">\n\t\t<div class=\"elementor-element elementor-element-4566aa0 e-con-full e-flex e-con e-child\" data-id=\"4566aa0\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-3ffebf8 elementor-widget__width-inherit elementor-widget-mobile__width-auto elementor-absolute elementor-widget elementor-widget-image\" data-id=\"3ffebf8\" data-element_type=\"widget\" data-settings=\"{&quot;_position&quot;:&quot;absolute&quot;}\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/api.whatsapp.com\/send\/?phone=5219999929403&#038;text&#038;type=phone_number&#038;app_absent=0\">\n\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/asipagac.com\/wp-content\/uploads\/2024\/11\/GAP-TIPO-1-11.png\" title=\"\" alt=\"\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-c2827d7 e-con-full e-flex e-con e-child\" data-id=\"c2827d7\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-efeff62 elementor-align-right elementor-widget__width-auto elementor-widget elementor-widget-button\" data-id=\"efeff62\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"#\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">DONAR AHORA<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-506c0af e-con-full e-flex e-con e-child\" data-id=\"506c0af\" data-element_type=\"container\">\n\t\t\t\t<div class=\"elementor-element elementor-element-751a7d9 elementor-align-left elementor-widget__width-inherit elementor-widget-mobile__width-auto elementor-widget elementor-widget-button\" data-id=\"751a7d9\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"#\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">CONT\u00c1CTENOS<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>GA TIPO 2 Inicio &gt; Enfermedades &gt; GA TIPO 2 Nuestros profesionales nos lo explican La Aciduria Glut\u00e1rica tipo 2 (GA2) Las personas con GA-2 tienen defectuosos los genes encargados de la transferencia de electrones de la cadena respiratoria de la mitocondria (org\u00e1nulo de la c\u00e9lula que produce la energ\u00eda para su actividad). Nuestros profesionales<\/p>","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-157","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/pages\/157","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/comments?post=157"}],"version-history":[{"count":34,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/pages\/157\/revisions"}],"predecessor-version":[{"id":524,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/pages\/157\/revisions\/524"}],"wp:attachment":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/media?parent=157"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}