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

Abstract

We have studied families C and A in which superactivity of PRPP synthetase (E.C. 2.7.6.1) 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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