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Article

HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.

Archives of medical research - 1 May 2007

Zamora Alfonso, Escárcega Ricardo O, Vazquez Rodrigo, Zamora Antonio, O'Neill J Patrick

Abstract excerpt

We describe an HPRT deficiency in a 2-month-old child who presented acute renal failure and gout with normal mental and motor development for age. The patient was diagnosed with Lesch-Nyhan disease and showed a new mutation, a deletion of two bases in exon 3 of the HPRT gene (c.269-270delAT).

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Source

Identifiers

PMID: 17416296
DOI: 10.1016/j.arcmed.2006.10.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17416296-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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