Disorders in sterol metabolism: A case series

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. The infant was identified by the NSW newborn screening program and biochemically confirmed by the characteristic plasma and urine diagnostic profile. He was asymptomatic in the neonatal period and has not had any metabolic decompensation. He is growing and developing normally. However, diagnosis in the adult was challenging as the initial urine organic acid profile was normal at the time of severe metabolic decompensation and the biochemical markers of MADD were only detected after carnitine supplementation. He has shown clinical improvement after treatment with carnitine, 3-hydroxybutyrate, CoQ, riboflavin and glycine. This report highlights the need for early diagnosis as patients including those with late onset forms can have a favourable response with intervention.