Tzu Chi Medical Journal
Volume 19, Issue 3 , Pages 105-108, September 2007

Lesch-Nyhan Disease and Related Disorders of Purine Metabolism

  • William L. Nyhan

      Affiliations

    • Corresponding Author InformationCorresponding author. Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093-0830, USA

Department of Pediatrics, University of California, San Diego, USA

Received 29 March 2007; received in revised form 30 March 2007; accepted 2 April 2007.

Abstract 

Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT). Other variant enzymes are found in patients without abnormality in behavior or mental development; and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered.

Keywords:  HPRT , Hyperuricemia , Lesch-Nyhan disease , Mutation , Self-injurious behavior

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PII: S1016-3190(10)60001-8

doi:10.1016/S1016-3190(10)60001-8

Tzu Chi Medical Journal
Volume 19, Issue 3 , Pages 105-108, September 2007

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