Abstract
Adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) catalyzes the synthesis of AMP from adenine and 5-phosphoribosyl1-pyrophosphate. In APRT deficiency (McKusick 102600), adenine is oxidized by xanthine oxidase to the highly insoluble and nephrotoxic derivative, 2,8-dihydroxyadenine. The accumulation of this compound in the kidney can lead to stone formation and eventual renal failure (Simmonds et al. 1989).
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References
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© 1991 Plenum Press, New York
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Sahota, A., Chen, J., Stambrook, P.J., Tischfield, J.A. (1991). Mutational Basis of Adenine Phosphoribosyltransferase Deficiency. 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_16
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_16
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