AB101. Neonatal form of Isovaleric acidemia in Vietnamese patients: clinical history and outcomes

摘要

Background and objectiveIsovaleric academia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD). The clinical presentation of IVA appears to be highly variable ranging from severely affected to asymptomatic subjects. This is the first report of Vietnamese patients with IVA. Describe clinical features and outcome of Vietnamese patients with IVA.