Symptoms:
- Skin rash, usually on exposure to sunlight
- Widely spaced episodes of uncoordinated movement (rare)
- Mood changes and psychiatric disease (rare)
- Neurologic problems, such as abnormal muscle tone
Signs and tests:
A urinalysis that checks for elevated levels of "neutral" amino acids and normal levels of other amino acids may be done for this disorder. A genetic test may become available soon.