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Hartnup disorder - Symptom

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.

  • Reviewed last on: 8/11/2006
  • Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.