Isovaleric Acidemia: A Novel Mutation with Mild Phenotype

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.

References

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Published

2015-04-30

How to Cite

Matalon, K., Lombardo, R., Fuller, K., & Matalon, R. (2015). Isovaleric Acidemia: A Novel Mutation with Mild Phenotype. Journal of Nutritional Therapeutics, 4(1), 24–27. https://doi.org/10.6000/1929-5634.2015.04.01.5

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