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Article

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?

Journal of inherited metabolic disease - 1 Jan 2016

Schretlen David J, Callon Wynne, Ward Rebecca E, Fu Rong, Ho Tiffany, Gordon Barry, Harris James C, Jinnah H A

Abstract excerpt

Lesch-Nyhan disease (LND) is a rare, X-linked recessive neurodevelopmental disorder caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme in the purine salvage pathway. HGprt has two functions; it recycles hypoxanthine and guanine. Which of these two functions is more relevant for pathogenesis is unclear because some evidence points to hypoxanthine recycling, but other evidence...

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Identifiers

PMID: 26067813
DOI: 10.1007/s10545-015-9869-x
PMCID: PMC5903427

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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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