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Genetic and Rare Diseases Information Center (GARD)

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Valinemia


Other Names for this Disease

  • Hypervalinemia
  • Valine transaminase deficiency
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Overview

Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.[1]
Last updated: 11/19/2014

References

  1. Valinemia. NORD. September 17, 2007; http://rarediseases.org/rare-disease-information/rare-diseases/byID/627/viewAbstract. Accessed 11/19/2014.
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Basic Information

  • 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.

In Depth Information

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Valinemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypervalinemia
  • Valine transaminase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.