Valinemia
Overview
A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.
Symptoms
The list of signs and symptoms mentioned in various sources for Valinemia includes the symptoms listed below:
- Vomiting
- Hypotonia
- Growth retardation
- Failure to thrive
- Poor feeding
- Poor concentration
- Vomiting
- Diarrhea
- Failure to thrive
- Mental retardation
- Hyperkinesia
- Muscular hypotonia
- Rapid involuntary eye movements
- Increased valine in urine
- Poor appetite
- Drowsiness
Causes
Valinemia is caused by a deficiency of the enzyme valine transaminase.
Treatment
A diet low in valine introduced during early infancy usually improves symptoms of valinemia, and lowers the valine concentrations in the blood to normal levels.