It is possible that the main title of the record Valinemia is not the name you anticipated. Kindly check the words specifying to find the alternate name(s) as well as disorder subdivision(s) covered by this record.
- Valine Transaminase Shortage
Valinemia is a quite uncommon metabolic disorder. It is characterized by raised degrees of the amino acid valine in the blood and urine dued to 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 also fail to prosper. Reduced muscle tissue tone (hypotonia) as well as hyperactivity also take place.
The malfunction of valine involves a minimum of seven stages and a deficiency of the suitable enzyme at any of these phases results in a problem of varying seriousness and also rarity.