Phosphoribosyl pyrophosphate synthase superactivity (Q97745): Difference between revisions

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Latest revision as of 13:52, 16 August 2026

Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity.

Language	Label	Description	Also known as
default for all languages	ID_1484121955
English	Phosphoribosyl pyrophosphate synthase superactivity	Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity.