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Lesch-Nyhan disease: from mechanism to model and back again

25 Feb 2009

Abstract excerpt

Lesch-Nyhan disease (LND) is a rare inherited disorder caused by mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by overproduction of uric acid, leading to gouty arthritis and nephrolithiasis. Affected patients also have characteristic neurological and behavioral anomalies. Multiple cell models have been developed to study the molecular and metabolic...

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PMID: 19259384
DOI: 10.1242/dmm.002543

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