phosphoribosylpyrophosphate synthetase superactivity (PRPS-related gout)

Genetics

• associated with defects in PRPS1

Clinical manifestations

• excessive purine production, gout & uric acid urolithiasis

Management

• allopurinol

More general terms

• inborn error of metabolism

Additional terms

• phosphoribosyl pyrophosphate [PRPP] synthetase; ribosephosphate pyrophosphokinase

Database

• OMIM: https://mirror.omim.org/entry/300661