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Valinemia

Abstract

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Synonyms of Valinemia

  • Hypervalinemia
  • Valine Transaminase Deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of valine. Infants with valinemia usually have a lack of appetite, vomit frequently, and fail to thrive. Low muscle tone (hypotonia) and hyperactivity also occur.

The breakdown of valine involves at least seven stages and a deficiency of the appropriate enzyme at any of these stages leads to a disorder of varying severity and rarity.

Organizations related to Valinemia

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