Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

doi:10.1186/1750-1172-2-48

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Article

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Orphanet journal of rare diseases - 8 Dec 2007

Torres Rosa J, Puig Juan 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 the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall...

Topics

Genetic Counseling
Humans
Hyperuricemia
Hypoxanthine Phosphoribosyltransferase
Lesch-Nyhan Syndrome
Male
Mutation
Purines
Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 18067674
DOI: 10.1186/1750-1172-2-48
PMCID: PMC2234399

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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