{"id":2077,"date":"2025-06-16T13:41:18","date_gmt":"2025-06-16T19:41:18","guid":{"rendered":"https:\/\/asipagac.com\/?p=2077"},"modified":"2025-06-16T13:41:18","modified_gmt":"2025-06-16T19:41:18","slug":"la-aplicacion-de-la-secuenciacion-masiva-de-dna-permitio-el-diagnostico-de-aciduria-glutarica-tipo-ii-en-una-nina-de-10-anos-con-sintomas-predominantemente-gastrointestinales-en-un-hospital-pediatric","status":"publish","type":"post","link":"https:\/\/asipagac.com\/en\/la-aplicacion-de-la-secuenciacion-masiva-de-dna-permitio-el-diagnostico-de-aciduria-glutarica-tipo-ii-en-una-nina-de-10-anos-con-sintomas-predominantemente-gastrointestinales-en-un-hospital-pediatric\/","title":{"rendered":"La aplicaci\u00f3n de la secuenciaci\u00f3n masiva de DNA permiti\u00f3 el diagn\u00f3stico de aciduria glut\u00e1rica tipo II en una ni\u00f1a de 10 a\u00f1os con s\u00edntomas predominantemente gastrointestinales, en un hospital pedi\u00e1trico de Taiw\u00e1n."},"content":{"rendered":"<p><strong class=\"sub-title\">Background:\u00a0<\/strong>Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages.<\/p>\n<p><strong class=\"sub-title\">Case report:\u00a0<\/strong>This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin.<\/p>\n<p><strong class=\"sub-title\">Significance:\u00a0<\/strong>This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.<\/p>\n<p>More info: https:\/\/pubmed.ncbi.nlm.nih.gov\/38539320\/<\/p>","protected":false},"excerpt":{"rendered":"<p>Background:\u00a0Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages. Case report:\u00a0This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive<\/p>","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[53],"tags":[],"class_list":["post-2077","post","type-post","status-publish","format-standard","hentry","category-salud"],"acf":[],"_links":{"self":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/posts\/2077","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/types\/post"}],"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=2077"}],"version-history":[{"count":1,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/posts\/2077\/revisions"}],"predecessor-version":[{"id":2078,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/posts\/2077\/revisions\/2078"}],"wp:attachment":[{"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/media?parent=2077"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/categories?post=2077"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/asipagac.com\/en\/wp-json\/wp\/v2\/tags?post=2077"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}