Catalog

Phosphoribosyl pyrophosphate synthase superactivity

No MMS code

Link to WHO Definition

Phosphoribosyl pyrophosphate synthase superactivity – http://id.who.int/icd/entity/1484121955

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.