{"id":76,"date":"2024-11-06T23:02:52","date_gmt":"2024-11-06T23:02:52","guid":{"rendered":"https:\/\/asipagac.com\/?page_id=76"},"modified":"2024-11-21T23:42:28","modified_gmt":"2024-11-21T23:42:28","slug":"gatipo1","status":"publish","type":"page","link":"https:\/\/asipagac.com\/en\/gatipo1\/","title":{"rendered":"GA TIPO 1"},"content":{"rendered":"
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GA TIPO 1<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Inicio > Enfermedad > GA TIPO 1<\/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

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Our professionals explain<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Glutaric Acidemia type 1 (GAT AGT) is an uncommon condition, which comes within the congenital errors of the metabolism of the organic acids (OOA) .\u00a0<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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It is considered a neurometabolic disease or organic brain aciduria , a metabolic disease whose target organ is the brain, with symptoms primarily neurological.\u00a0<\/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<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Glutaric Acidemia type 1 (GAT AGT) is an uncommon condition, which comes within the congenital errors of the metabolism of the organic acids (OOA) .\u00a0<\/p>

It is considered a neurometabolic disease or organic brain aciduria , a metabolic disease whose target organ is the brain, with symptoms primarily neurological.<\/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

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The Glutaric Acidemia type 1 is expressed primarily in the central nervous system, with neurological symptoms that usually include movement disorders, developmental delay, psychomotor, and, in severe cases, irreversible brain damage. The symptoms can appear in childhood and worsen if not diagnosed and treated on time. Although some patients may not show symptoms in the first few years of life, the disease is often triggered during episodes of febrile illness, or metabolic stress.<\/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

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The cause of the GA-1 mutations are in the <\/span>gene GCDH<\/span><\/a>located on 19p13.2, which gives the instructions for a protein of the mitochondrial matrix-dependent flavin-adenine-dinucle\u00f3tidopara to produce the enzyme glutaril-CoA dehydrogenase located in the <\/span>mitochondria<\/span><\/a>, liver, kidney, <\/span>fibroblasts<\/span><\/a> and <\/span>leukocytes<\/span><\/a>; which is responsible for the dehydrogenation of the glutaril-CoA and the decarboxylation of glutaconil-CoA to crotonil-CoA, is involved in the catabolic pathways of the<\/span> L-lysine<\/span><\/a>, L-hydroxylysine and <\/span>L-tryptophan<\/span><\/a>; found in all foods that contain protein.<\/span><\/p>

The most prevalent mutation in Spain are: R402W (enzyme activity almost zero, high concentration of metabolites), A293T (enzyme activity almost zero, high concentration of metabolites), V400M (residual enzyme activity, excretion mild metabolites), R227P (residual enzyme activity, excretion minor metabolite).<\/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

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In people with GA-1 <\/span>enzyme intramitochondrial glutaril-CoA dehydrogenase deficiency<\/span><\/a>, does not work well or does not occur at all; this causes the incomplete degradation of lysine, tryptophan and hidrolysine, which gives rise to elevated levels of <\/span>glutaric acid, acid-3-hidroxiglut\u00e1rico, acid glutac\u00f3nico and glutarilcarnitina C5D5<\/span>, which cannot be removed and accumulate in the blood and urine. These may affect the health, growth, development and learning.<\/span><\/p>

A higher intake of lysine according to individual tolerance, or due to the catabolism during acute episodes of illness, fever, surgical intervention or reaction vaccine increase the levels of lysine in the brain and in consequence of the metabolites AG, 3-OH-ga and Glutaril-CoA.<\/span><\/p>

The blood-brain barrier \"catches\" these metabolites, which accumulate and negatively affect the brain's energy metabolism.<\/span><\/p>