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Article

Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.

Molecular genetics and metabolism - 1 May 2005

De Gregorio Laura, Jinnah H A, Harris James C, Nyhan William L, Schretlen David J, Trombley Lucy M, O'Neill J Patrick

Abstract excerpt

Lesch-Nyhan disease (LND) is an inborn error of purine metabolism caused by defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT, EC 2.4.2.8), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classic phenotype occurs almost exclusively in males and is characterized by hyperuricemia, mental retardation, severe dystonia, and...

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Identifiers

PMID: 15862283
DOI: 10.1016/j.ymgme.2004.11.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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