Isovaleric Acidemia: A Novel Mutation with Mild Phenotype
Pages 24-27
K. Matalon, R. Lombardo, K. Fuller and R. Matalon

DOI: http://dx.doi.org/10.6000/1929-5634.2015.04.01.5

Published: 30 April 2015

Abstract: Isovaleric Acidemia (IVA) is considered a severe metabolic disorder with significant morbidity and mortality. It is caused by deficiency of the enzyme Isovaleryl-CoA dehydrogenase (IVD). Early treatment with carnitine and glycine reduces the episodes of the severe metabolic crises. With the advent of neonatal screening, IVD deficiency has shown a spectrum of severity. We describe a novel homozygous mutation, R332L, in the IVD enzyme with a benign phenotype.

Keywords: IVA, IVD, Isovalerylcarnitine, Isovalerylglycine, newborn screen.