It is possible that the main title of the report Valinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Valine Transaminase Deficiency
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.
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