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Article

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.

Molecular genetics and metabolism - 1 Mar 2006

Rinat Choni, Zoref-Shani Esther, Ben-Neriah Ziva, Bromberg Yael, Becker-Cohen Rachel, Feinstein Sofia, Sperling Oded, Frishberg Yaacov

Abstract excerpt

Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by virtually complete deficiency of activity of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT; EC 2.4.2.8). Human HPRT is encoded by a single structural gene located on the long arm of the X-chromosome (Xq26). The classical LND phenotype occurs almost exclusively in males, manifested in excessive purine production and...

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Identifiers

PMID: 16343967
DOI: 10.1016/j.ymgme.2005.09.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.PMID 16343967Read ↗

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