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Article

Variable expression of HPRT deficiency in 5 members of a family with the same mutation.

Archives of neurology - 1 Sept 2008

Hladnik Uros, Nyhan William L, Bertelli Matteo

Abstract excerpt

BACKGROUND: Lesch-Nyhan disease is an inborn error of purine metabolism that results from deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). In the classic disease, the activity of the enzyme is completely deficient; the patient has mental retardation, spasticity, dystonia, and self-injurious behavior, as well as elevated concentrations of uric acid in blood and urine and its...

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Identifiers

PMID: 18779430
DOI: 10.1001/archneur.65.9.1240

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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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