Hartnup disorder

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• 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

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.

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.