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Article

PRPS1 mutations: four distinct syndromes and potential treatment.

American journal of human genetics - 9 Apr 2010

de Brouwer Arjan P M, van Bokhoven Hans, Nabuurs Sander B, Arts Willem Frans, Christodoulou John, Duley John

Abstract excerpt

Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell function, being the building blocks of nucleic acids and serving as cofactors in cellular signaling and metabolism. With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expressed gene of the three PRS...

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Identifiers

PMID: 20380929
DOI: 10.1016/j.ajhg.2010.02.024
PMCID: PMC2850427

Genes

PRPS1

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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PRPS1 mutations: four distinct syndromes and potential treatment.PMID 20380929Read ↗

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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.Semantic proximity Read ↗

Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.Semantic proximity Read ↗

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Semantic proximity Read ↗

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