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Article

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

Arthritis and rheumatism - 1 Jul 2009

Ea Hang-Korng, Bardin Thomas, Jinnah H A, Aral Bernard, Lioté Frédéric, Ceballos-Picot Irène

Abstract excerpt

A deficiency in hypoxanthine guanine phosphoribosyltransferase (HPRT) activity leads to overproduction of uric acid. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan disease. Herein, we describe a patient with hyperuricemia, juvenile-onset gouty arthritis, nephrolithiasis, and mild...

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Identifiers

PMID: 19565499
DOI: 10.1002/art.24617
PMCID: PMC2925154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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