pediatrics
Purine Nucleotide Synthesis Disorders
Phosphoribosylpyrophosphate synthetase superactivity
This X-Linked Recessive disorder causes purine overproduction. Excess purine is degraded, resulting in hyperuricemia and Diagnosis of phosphoribosylpyrophosphate synthetase superactivity is by DNA analysis. Phosphoribosylpyrophosphate synthetase superactivity treatment is withallopurinoland a low-purine diet. 