NCIt synonyms : Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Glutaric Acidemia Type 2;
NCIt related terms : Glutaric Aciduria, Type 2;
NCIt definition : A rare autosomal recessive inherited metabolic disorder caused by mutations in the
ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer
flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical
presentations include congenital abnormalities (brain and facial malformations), hypotonia,
dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral
changes.;