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Lesch-Nyhan syndrome

Definition:
Lesch-Nyhan syndrome is an inheritable disorder that affects purine metabolism. This affects how the body uses RNA and DNA, the proteins that make up the genetic blueprint and determine which proteins are produced for use in cellular processes.

Causes, incidence, and risk factors:

Lesch-Nyhan syndrome is inherited as an X-linked trait, therefore the disease is seen only in males. It is characterized by increased blood and uric acid levels and by the absence of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGP).

Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained.

The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, renal dysfunction develops because of the excess uric acid levels.



Review Date: 7/11/2002
Reviewed By: Chayim Newmark, M.D., Department of Pediatrics, St. Louis Children's Hospital, Washington University, St. Louis, MO. Review provided by VeriMed Healthcare Network.

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