Multiple acyl-Coa dehydrogenase deficiency (MADD) – adult and neonatal presentation

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD), or glutaric acidemia type II, is an autosomal recessive disorder of oxidative metabolism. MADD has a wide clinical spectrum with clinical presentation in the neonatal period with or without congenital malformations, through to later onset. Episodes of clinical decompensation may be triggered by catabolic stressors such as intercurrent illnesses and prolonged fasting. The diagnosis of MADD is made according to the profiles of urine organic acids and plasma or dried blood spot (DBS) acylcarnitines.