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Article

Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.

Joint bone spine - 1 Jan 2013

Sapag Ana, Frischling Eduardo, Laborde Hugo

Abstract excerpt

The hypoxanthine-guanine phosphoribosyltransferase deficiency is an inborn error of purine metabolism, linked to the X chromosome. The clinical phenotypes associated with HPRT deficiency varied according to the level of enzyme deficiency, with a large spectrum of neurologic features like self-injurious behaviour in patients with complete deficiency. We report a 20-year-old man who had asymmetric polyarthritis,...

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Source

Identifiers

PMID: 22999896
DOI: 10.1016/j.jbspin.2012.06.020

Genes

GAA
CAT

Variants

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.

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Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.PMID 22999896Read ↗

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[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].Semantic proximity Read ↗

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

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.Semantic proximity Read ↗

Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.Semantic proximity Read ↗

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).Semantic proximity Read ↗

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The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.Semantic proximity Read ↗

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

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