Multiple Acyl-CoA Dehydrogenase Deficiency

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Glutaric Acidemia Type 2 - Glutaric Aciduria, Type 2 - MADD - Multiple Acyl Coenzyme A Dehydrogenase Deficiency