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Mutational Basis of Adenine Phosphoribosyltransferase Deficiency

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Part of the Advances in Experimental Medicine and Biology book series (AEMB,volume 309B)

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

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4615-7705-8

  • Online ISBN: 978-1-4615-7703-4

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