Abstract
Phosphoribosylpyrophosphate synthetase (PRS) (EC 2.7.6.1) catalyzes the reaction: ribose-5-phosphate + ATPMg2+ → 5-phosphoribosyl 1-pyrophosphate (PRPP) + AMP (Fox et al., 1971). Superactivity of PRS is an X chromosome linked inherited disorder in which excessive enzyme activity is associated with uric acid overproduction and gout (Yen et al., 1978; Becker et al., 1979). Uric acid overproduction in individuals with PRS superactivity appears to result from increased production of PRPP and subsequent acceleration of de novo and salvage purine nucleotide synthesis (Zoref et al., 1975; Becker et al., 1973).
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References
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© 1991 Plenum Press, New York
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Roessler, B.J., Golovoy, N., Palella, T.D., Heidler, S., Becker, M.A... (1991). Identification of Distinct PRS1 Mutations in Two Patients with X-Linked Phosphoribosylpyrophosphate Synthetase Superactivity. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_28
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_28
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