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Article

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2014

Yamada Yasukazu, Nomura Noriko, Yamada Kenichiro, Kimura Reiko, Fukushi Daisuke, Wakamatsu Nobuaki, Matsuda Yasufumi, Yamauchi Takahiro, Ueda Takanori, Hasegawa Hiroshi, Nakamura Makiko, Ichida Kimiyoshi, Kaneko Kiyoko, Fujimori Shin

Abstract excerpt

Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout with hyperuricemia. Four mutations were detected in two Lesch-Nyhan families an...

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Identifiers

PMID: 24940672
DOI: 10.1080/15257770.2013.865743

Genes

HPRT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24940672-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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