Disease_Mapped_To_Gene CTRP Terminology CTRP Disease Terminology ETFA Gene Cellosaurus Disease Terminology ETFB Gene ETFDH Gene Congenital Metabolic Disorder Rare Non-Neoplastic Disorder Multiple Acyl-CoA Dehydrogenase 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. NICHD Multiple Acyl-CoA Dehydrogenase Deficiency CTRP C0268596 Disease or Syndrome Multiple Acyl-CoA Dehydrogenase Deficiency MADD Glutaric Acidemia Type 2 Multiple Acyl-CoA Dehydrogenase Deficiency C84907 Cellosaurus Multiple Acyl Coenzyme A Dehydrogenase Deficiency Glutaric Aciduria, Type 2 NICHD Terminology Neonatal Research Network Terminology