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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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Symptoms


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What are the signs and symptoms of isovaleric acidemia?

Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.[1][2]

In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.[1]

Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition.[1]
Last updated: 12/5/2011

References
  1. Isovaleric acidemia. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/isovaleric-acidemia. Accessed 5/9/2011.
  2. Babys First Test Isovaleric Acidemia. Baby's First Test. http://www.babysfirsttest.org/conditions/IVA. Accessed 12/5/2011.