Isovaleric Acidemia: A Novel Mutation with Mild Phenotype

K. Matalon; R. Lombardo; K. Fuller; R. Matalon

doi:10.6000/1929-5634.2015.04.01.5

Authors

K. Matalon Department of Health and Human Performance Houston, University of Houston, TX, USA
R. Lombardo School of Medicine, University of Texas Medical Branch, Galveston, TX, USA
K. Fuller Department of Pediatrics, Baylor Scott and White Memorial Hospital, Temple, TX, USA
R. Matalon Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, USA

DOI:

https://doi.org/10.6000/1929-5634.2015.04.01.5

Keywords:

, IVD, Isovalerylcarnitine, Isovalerylglycine, newborn screen.

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.

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