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Article

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

Clinica chimica acta; international journal of clinical chemistry - 2 Feb 2015

Kostalova Eva, Pavelka Karel, Vlaskova Hana, Musalkova Dita, Stiburkova Blanka

Abstract excerpt

BACKGROUND: X-linked hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in an inherited disorder of purine metabolism is usually associated with the clinical manifestations of hyperuricemia. A variable spectrum of neurological involvement occurs predominantly in males. Females are usually asymptomatic. Carrier status cannot be confirmed by biochemical and enzymatic methods reliably. METHODS: We...

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Source

Identifiers

PMID: 25476133
DOI: 10.1016/j.cca.2014.11.026

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.

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