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Article

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Apr 2008

Yamada Yasukazu

Abstract excerpt

Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8; MIM308000), give rise to Lesch-Nyhan syndrome (MIM300322) or HPRT-related gout called as Kelley-Seegmiller syndrome (MIM300323). In contrast with the most severe phenotype of classical Lesch-Nyhan disease (LND), the least severe phenotype is characterized by hyperuricemia without any neurological or...

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Source

Identifiers

PMID: 18409516

Genes

HPRT1

Provenance

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.

Related research

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[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].PMID 18409516Read ↗

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

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.Semantic proximity Read ↗

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.Semantic proximity Read ↗

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.Semantic proximity Read ↗

[Complete and partial deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

The spectrum of mutations causing HPRT deficiency: an update.Semantic proximity Read ↗

[Hypoxanthine-guanine phosphoribosyltransferase deficiency].Semantic proximity Read ↗

[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].Semantic proximity Read ↗

Partial HPRT deficiency (Kelley-Seegmiller syndrome).Semantic proximity Read ↗

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

Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.Semantic proximity Read ↗

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

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