Search
phosphoribosylpyrophosphate synthetase superactivity (PRPS-related gout)
Genetics:
- associated with defects in PRPS1
Clinical manifestations:
- excessive purine production, gout & uric acid urolithiasis
Management:
- allopurinol
Related
phosphoribosyl pyrophosphate [PRPP] synthetase; ribosephosphate pyrophosphokinase
General
inborn error of metabolism
Database Correlations
OMIM 300661
References
OMIM :accession 300661