| Health / Medical Topics |
Lesch-Nyhan Syndrome
An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips). (NCI Thesaurus)
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