View source for Isovaleric acidemia

{{DiseaseDisorder infobox |
  Name           = Isovaleric acidemia |
  ICD10          = {{ICD10|E|71|1|e|70}} |
  ICD9           = {{ICD9|270.3}} |
  ICDO           = |
  Image          = Isovaleric acid structure.png |
  Caption        = [[Isovaleric acid]] |
  Width          = 135 |
  OMIM           = 243500 |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  DiseasesDB     = 29840 |
}}
{{SI}}


'''Isovaleric acidemia''' is a rare [[genetic disorder]] in which the body is unable to process certain [[protein]]s properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid [[leucine]]. It is closely related to the genetic metabolic disorder [[Maple syrup urine disease]].

==Symptoms==
A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called [[isovaleric acid]] in affected individuals.

In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, [[vomit]]ing, [[seizure]]s, and [[lethargy|lack of energy]] that can progress to [[coma]]. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection or by eating an increased amount of protein-rich foods.

The urine of newborn can be screened with [[mass spectrometry]] for isovaleric acid, allowing for presymptomatic diagnosis. 

==Genetics==
Isovaleric acidemia is estimated to affect at least 1 in 250,000 births in the United States. The condition is inherited in an [[autosomal recessive]] pattern, caused by mutations in both copies of the ''IVD'' [[gene]].

The enzyme encoded by ''IVD'', [[isovaleric acid-CoA dehydrogenase]] ({{EC number|1.3.99.10}}), plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the third step in processing leucine, an amino acid that 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, a molecule called isovaleric acid and related compounds build up to harmful levels, damaging the brain and nervous system.

==References==
*Budd, M. A. et al. Isovaleric acidemia: clinical feature of a new genetic defect of leucine metabolism. ''New Eng. J. Med.'' 277: 321-327, 1967. PMID 4378266
*National Library of Medicine. [http://ghr.nlm.nih.gov/condition=isovalericacidemia?wf=1 Genetics Home Reference: Isovaleric acidemia] 

==See also==
* [[Methylmalonic acidemia]]
* [[Propionic acidemia]]

==External links==
* [http://www.oaanews.org  Organic Acidemia Association]
* {{NLM|isovalericacidemia}}
* {{GPnotebook|-187695062}}

{{Endocrine, nutritional and metabolic pathology}}


[[Category:Genetic disorders]]
[[Category:Inborn errors of metabolism]]

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