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Hartnup disorder

Definition:

Hartnup disorder is an inherited metabolic disorder involving the transport of certain amino acids (for example, tryptophan and histidine) in the small intestine and kidneys.



Causes, incidence, and risk factors:

Hartnup disorder is possibly the most common metabolic condition involving amino acids. It is a genetic disorder inherited in an autosomal recessive manner, which means that the child must inherit the defective gene from both parents in order to be seriously affected.

Although most people show no symptoms, photosensitivity is the major symptom, and uncoordinated movements and mood changes often appear together in some cases. The condition usually begins in childhood.




Review Date: 7/26/2004
Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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