Title : Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.

Pub. Date : 2003 Jul 15

PMID : 12829005






1 Functional Relationships(s)
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1 Lesch-Nyhan syndrome (LNS) is caused by a severe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and clinically characterized by self-injurious behavior and nephrolithiasis; the latter is treatable with allopurinol, an inhibitor of xanthine oxidase which converts xanthine and hypoxanthine into uric acid. Hypoxanthine hypoxanthine phosphoribosyltransferase 1 Homo sapiens