Health / Medical Topics |
Multiple Acyl-CoA Dehydrogenase Deficiency
A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, and ETFDH genes. It is characterized by defects of the electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase. Clinical presentations include congenital abnormalities, hepatomegaly, metabolic acidosis, and hypotonia. (NCI Thesaurus)
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