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Article

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

Nucleosides, nucleotides & nucleic acids - 1 Jun 2010

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N

Abstract excerpt

Inherited mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome or HPRT-related gout. On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including neurodevelopmental abnormalities....

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Topics

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Share to Genetic Diseases, X-Linked
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lesch-Nyhan Syndrome

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Source

Identifiers

PMID: 20544509
DOI: 10.1080/15257771003738691

Genes

HPRT1
PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20544509-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.PMID 20544509Read ↗

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.Semantic proximity Read ↗

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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.Semantic proximity Read ↗

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.Semantic proximity Read ↗

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Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.Semantic proximity Read ↗

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