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Article

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Human genetics - 1 Nov 1992

Sculley D G, Dawson P A, Emmerson B T, Gordon R B

Abstract excerpt

Hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) is a purine salvage enzyme that catalyses the conversion of hypoxanthine and guanine to their respective mononucleotides. Partial deficiency of this enzyme can result in the overproduction of uric acid leading to a severe form of gout, whilst a virtual absence of HPRT activity causes the Lesch-Nyhan syndrome which is characterised by...

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PMID: 1487231
DOI: 10.1007/BF00220062

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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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A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.PMID 1487231Read ↗

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Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

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Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

The Study on the Clinical Phenotype and Function of HPRT1 GeneSemantic proximity Read ↗

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.Semantic proximity Read ↗

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