Preferred Label : Phosphoribosyl pyrophosphate synthase superactivity;
ICD-11 definition : 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.;
ICD-11 synonym : Phosphoribosylpyrophosphate synthetase superactivity;
Origin ID : 1484121955;
Currated CISMeF NLP mapping
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.
