Valinemia. Valine transaminase deficiency.
Incidence
Very rare. Autosomal recessive.
Clinical Characteristics
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.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Aminoacids in plasma and urine. Valinemia. Valinuria. No elevation of leucine and isoleucine