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Article

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

American journal of medical genetics. Part A - 1 Feb 2012

Moran Rocio, Kuilenburg André B P, Duley John, Nabuurs Sander B, Retno-Fitri Aditia, Christodoulou John, Roelofsen Jeroen, Yntema Helger G, Friedman Neil R, van Bokhoven Hans, de Brouwer Arjan P M

Abstract excerpt

We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections. The uric acid overproduction accompanying this combination of symptoms suggests that the patient presented with phosphoribosylpyrophosphate (PRPP) synthetase superactivity, but recurrent...

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Source

Identifiers

PMID: 22246954
DOI: 10.1002/ajmg.a.34428

Genes

PRPS1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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