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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Isovaleric acidemia


Other Names for this Disease
  • Isovaleric acid CoA dehydrogenase deficiency
  • Isovaleryl CoA carboxylase deficiency
  • IVA
  • IVD deficiency
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Cause


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What causes isovaleric acidemia?

Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.[1]
Last updated: 6/8/2011

References
  1. Isovaleric acidemia. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/isovaleric-acidemia. Accessed 5/9/2011.