Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria

Glutaric aciduria type II was first reported in 1976 by Przyrembel et al. in an infant with severe hypoglycemia and profound metabolic acidosis without ketosis. Patients with this form of the disorder have overwhelming illness in the neonatal period that has been uniformly fatal. The fundamental molecular defect is in the mitochondrial transport of electrons from the acylCoAs to ubiquinone of the main electron transport chain. An infant with classic multiple acyl CoA dehydrogenase deficiency (MADD) presents with life-threatening illness in the first days of life. Infants without dysmorphic features and abnormal organogenesis have also presented early in life with tachypnea, acidosis, hypoglycemia, and an abnormal odor. Many have had hepatomegaly. The diagnosis in all forms of MADD has usually been made on the basis of the unusual pattern of organic acid excretion in which a large number of organic acids are found in the urine.