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  • Title: A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme.
    Author: Akaoka I, Fujimori S, Kamatani N, Takeuchi F, Yano E, Nishida Y, Hashimoto A, Horiuchi Y.
    Journal: J Rheumatol; 1981; 8(4):563-74. PubMed ID: 6271966.
    Abstract:
    Two male patients with urate overexcretion and clinical gout in a family showed activity of phosphoribosylpyrophosphate (PRPP) synthetase in erythrocyte lysates (3.1-fold) greater than that found in normal subjects. Hemolysates from 5 female persons in this family contained (2.7-fold) increased enzyme activity suggesting X-linked dominant transmission of the abnormality. Increased maximal velocity of the enzyme, aberrant protein pattern in polyacrylamide electrophoresis, and increased thermolability in purified enzyme suggested that this enzyme is a mutant one. From these findings, it was assumed that the characteristics of this enzyme were different from 4 previously reported enzymes.
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