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Article

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.

Orphanet journal of rare diseases - 23 Jan 2015

Ceballos-Picot Irène, Le Dantec Aurélia, Brassier Anaïs, Jaïs Jean-Philippe, Ledroit Morgan, Cahu Julie, Ea Hang-Korng, Daignan-Fornier Bertrand, Pinson Benoît

Abstract excerpt

BACKGROUND: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The residual HGprt activity correlates w...

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Identifiers

PMID: 25612837
DOI: 10.1186/s13023-014-0219-0
PMCID: PMC4320826

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25612837-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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