X-Linked Pattern of Inheritance of Gout Due to Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase
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We have recently reported a new familial enzyme abnormality associated with excessive purine production, gout and uric acid lithiasis (1–3). Phosphoribosylpyrophosphate (PRPP) synthetase in the erythrocytes and cultured skin fibroblasts from the propositus (O.G.) exhibited feedback-resistance to inhibition by several cellular compounds such as GDP and ADP. As a result the enzyme was superactive in the normal physiological milieu, and consequently PRPP content and availability for nucleotide synthesis were increased. In cultured fibroblasts the increased PRPP availability was manifest in accelerated de novo synthesis of purine nucleotides (3).
KeywordsMutant Cell Purine Nucleotide Culture Skin Fibroblast Purine Synthesis Healthy Brother
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- 1.Sperling, O., Boer, P., Persky-Brosh, S., Kanarek, E. and de Vries, A. Rev. Europ. Etud. Clin. Biol., 17:703–706, 1972.Google Scholar