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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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Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat.[1][2] Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death.[3] In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development.[3] IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner.[1] Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.[2][4][5]
Last updated: 3/30/2012


  1. Isovaleric acidemia. Genetics Home Reference (GHR). 2007; Accessed 5/9/2011.
  2. Organic Acid Oxidation Disorders: Isovaleric Acidemia. Screening, Technology and Research in Genetics (STAR-G). 2008; Accessed 5/9/2011.
  3. Isovaleric acidemia. Genetics Home Reference. April 2007; Accessed 3/30/2012.
  4. Isovaleric acidemia. Orphanet. 2005; Accessed 5/9/2011.
  5. Babys First Test Isovaleric Acidemia. Baby's First Test. Accessed 12/5/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Isovaleric acidemia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Isovaleric acidemia. Click on the link to view a sample search on this topic.