multiple acyl-CoA dehydrogenase deficiency

An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basi

An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.

Signs and symptoms

• Glutaric aciduria
• Elevated urine suberic acid level
• Hepatic steatosis
• Pulmonary hypoplasia
• Elevated circulating glutaric acid concentration
• Wide anterior fontanel
• Hypotonia
• Hepatomegaly
• Glycosuria
• Arrhythmia

Also known as: MAD deficiency; MADD; electron transfer flavoprotein deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; glutaric acidemia type 2