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Properties of Erythrocyte Purine Phosphoribosyltransferases in Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

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Purine Metabolism in Man

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 41A))

Abstract

Partial deficiency of HGPRT, a salvage enzyme of purine metabolism, has been demonstrated to be the primary abnormality causing purine overproduction in a small proportion of patients with gout (1–4). The quantitative deviation in the activity of this enzyme has been shown by Kelley et al. to be associated with decreased stability to thermal inactivation (2). These authors suggest that in the affected subjects HGPRT is structurally altered. Furthermore, in some of these patients erythrocyte adenine phosphoribosyltransferase (APRT) activity was found to be increased and relatively thermostable (2).

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References

  1. Kelley W.N., Rosenbloom F.M., Henderson J.F. and Seegmiller J.E. Proc. nat. Acad. Sci. (Wash.) 57: 1735, 1967.

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  2. Kelley W.N., Greene M.I., Rosenbloom F.M., Henderson J.F. and Seegmiller J.E. Ann. intern. Med. 70: 155, 1969.

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  3. Kogut M.D., Donnell G.N., Nyhan W.I. and Sweetman I. Amer. J. Med. 48: 148, 1970.

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  4. Sperling O., Frank M., Ophir R., Liberman U.A., Adam A. and De Vries A. Europ. J. clin. biol. Res. 15: 942, 1970.

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  5. Greene M.L., Bayles J.R. and Seegmiller J.E. Science 167: 887, 1970.

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© 1974 Plenum Press, New York

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Sperling, O., Boer, P., de Vries, A. (1974). Properties of Erythrocyte Purine Phosphoribosyltransferases in Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency. In: Sperling, O., De Vries, A., Wyngaarden, J.B. (eds) Purine Metabolism in Man. Advances in Experimental Medicine and Biology, vol 41A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-3294-7_25

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  • DOI: https://doi.org/10.1007/978-1-4684-3294-7_25

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-3296-1

  • Online ISBN: 978-1-4684-3294-7

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