Abstract
Superactivity of phosphoribosylpyrophosphate synthetase (PRPPS), the enzyme catalyzing synthesis of the purine regulatory substrate, phosphoribosylpyrophosphate, (PRPP) from adenosine triphosphate (ATP) and ribose 5-phosphate, is an inherited disorder in which excessive enzyme activity is associated with uric acid overproduction and gout1. Erythrocytes and cultured fibroblasts from affected individuals show increases in PRPP concentration. The metabolic basis for the increase enzyme activity of PRPPS has been fully studied2-4 whereas data on alteration in nucleotide and nucleoside profiles are scare5. In this study the biochemical abnormalities in a patient with PRPPS superactivity was investigated.
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© 1995 Springer Science+Business Media New York
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Bory, C., Chantin, C., Boulieu, R. (1995). Abnormal Purine and Pyrimidine Metabolism in Inherited Superactivity of PRPP Synthetase. In: Sahota, A., Taylor, M.W. (eds) Purine and Pyrimidine Metabolism in Man VIII. Advances in Experimental Medicine and Biology, vol 370. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-2584-4_4
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DOI: https://doi.org/10.1007/978-1-4615-2584-4_4
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