Other Names for this Disease
- Isovaleric acid CoA dehydrogenase deficiency
- Isovaleryl CoA carboxylase deficiency
- IVD deficiency
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organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. 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. 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. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. 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.Isovaleric acidemia (IVA) is a type of
Last updated: 5/16/2014
- Isovaleric acidemia. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/isovaleric-acidemia. Accessed 5/16/2014.
- Organic Acid Oxidation Disorders: Isovaleric Acidemia. Screening, Technology and Research in Genetics (STAR-G). June 22, 2011; http://www.newbornscreening.info/Parents/organicaciddisorders/IVA.html. Accessed 5/16/2014.
- Isovaleric acidemia. Orphanet. April 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=33. Accessed 5/16/2014.
- Babys First Test Isovaleric Acidemia. Baby's First Test. http://www.babysfirsttest.org/conditions/IVA. Accessed 5/16/2014.
- Baby's First Test offers an information page on Isovaleric acidemia. Please click the link to access this resource.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- The New England Consortium of Metabolic Program has written medical guidelines called acute care protocols for Isovaleric acidemia for health care professionals.
- Online Mendelian Inheritance in Man (OMIM) is a 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.