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Article

Partial HPRT deficiency phenotype and incomplete splicing mutation.

Nucleosides, nucleotides & nucleic acids - 1 Jun 2010

Torres R J, Garcia M G, Puig J G

Abstract excerpt

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of enzyme deficiency. The complete deficiency causes Lesch-Nyhan syndrome (LNS). Partial HPRT-deficient patients can show a variable degree of neurological manifestations. Both...

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Source

Identifiers

PMID: 20544510
DOI: 10.1080/15257771003730250

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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Partial HPRT deficiency phenotype and incomplete splicing mutation.PMID 20544510Read ↗

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