Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase

A. de Vries, O. Sperling

Research output: Contribution to journalArticlepeer-review

Abstract

The discovery of a mutant PRPP synthetase in a gouty patient with malignant uric acid lithiasis raises the question of the etiological significance of mutations in this enzyme in gout and uric acid lithiasis in general. As yet, the frequency of PRPP synthetase mutations in the gouty population is unassessed. On the other hand, even if this mutation may prove to be infrequent, as is HGPRT deficiency, its discovery strengthens the concept that purine overproduction leading to gout and uric acid lithiasis is a common phenotype to different genotypic alterations.

Original languageEnglish
Pages (from-to)153-157
Number of pages5
JournalDer Urologe
Volume12
Issue number4
StatePublished - 1973

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