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Lesch-Nyhan Disease and Related Disorders of Purine Metabolism

William L. Nyhan

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

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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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