Acyl-coa dehydrogenase family member 9 deficiency

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.

Disease Alternative Name

multiple acyl-coa dehydrogenase deficiency
multiple acyl coenzyme a dehydrogenase deficiency
glutaric aciduria
glutaric acidemia type 2