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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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Your Question

My grandson was diagnosed with IVA at birth. He seems to be quite healthy. He's 8 years old, very active and grades are great at school. His diet is mostly potatoes and fruit. He will not eat meat or poultry, but on some occasions. Will this condition be with him throughout his life, or is it possible that it will clear up?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Will an individual with isovaleric acidemia have the condition throughout his/her entire life?

Some individuals with gene mutations that are known to cause isovaleric acidemia (IVA) never experience any signs of the condition. Individuals who are diagnosed and do have signs and symptoms of IVA technically have the condition throughout life, although depending on the form of the condition, signs and symptoms may come and go over time.[1]

There are two recognized forms of IVA that cause symptoms. One is the acute neonatal form, in which signs and symptoms begin shortly after birth. This form often leads to severe metabolic acidosis in the first days of life, followed by death. The other form is a "chronic-intermittent" form, usually starting later in infancy or early childhood. Individuals with this form experience periods of metabolic crises with intervening periods of being asymptomatic (not having any symptoms).[2][3] Between episodes of metabolic crisis, children with IVA are usually healthy.[4] In general, for both forms (when infants with the acute form survive the neonatal period), episodes of metabolic crises tend to occur frequently in early infancy and young childhood, but the frequency usually diminishes as an affected individual ages.[3] With appropriate therapy, the long term prognosis for affected individuals is good.[5]
Last updated: 12/5/2011