Lesch-Nyhan syndrome(redirected from Hypoxanthine phosphoribosyltransferse (HPRT) deficiency)
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Lesch-Nyhan syndrome[′lesh ′nī‚han ‚sin‚drōm]
A hereditary disease of male children, transmitted as an X-linked recessive, characterized by hyperuricemia, deficiency of hypoxanthine-guanine phosphoribosyl transferase, mental retardation, spastic cerebral palsy, choreathetosis, and self-mutilating biting.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.