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Article

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

Nucleosides, nucleotides & nucleic acids - 1 Dec 2011

Yamada Yasukazu, Yamada Kenichiro, Nomura Noriko, Yamano Arisa, Kimura Reiko, Naiki Misako, Fukushi Daisuke, Wakamatsu Nobuaki, Taniguchi Atsuo, Yamaoka Noriko, Kaneko Kiyoko, Fujimori Shin

Abstract excerpt

Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine metabolism. Analyzing these two genes, we have identified three HPRT...

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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 Purine-Pyrimidine Metabolism, Inborn Errors

Source

Identifiers

PMID: 22132986
DOI: 10.1080/15257770.2011.597369

Genes

HPRT1
PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22132986-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.PMID 22132986Read ↗

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PRPS1 mutations: four distinct syndromes and potential treatment.Semantic proximity Read ↗

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