Isovaleric Acidemia: A Novel Mutation with Mild Phenotype
DOI:
https://doi.org/10.6000/1929-5634.2015.04.01.5Keywords:
, 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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