Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate.


We have studied families C and A in which superactivity of PRPP synthetase (E.C. is associated with gout and uric acid overproduction in affected hemizygous males. PRPP synthetase catalyzes synthesis of PRPP, a regulatory substrate in purine synthesis de novo. Activities of the enzyme in erythrocyte and fibroblast extracts from the male index cases… (More)


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