Abstract
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT, EC 2.4.2.8) and adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) catalyze the salvage pathway formation of purine nucleotides from the corresponding preformed purine bases by reacting them with a common substrate, 5-phosphoribosyl-l-pyrophosphate (PRPP) (1,2). A deficiency of HGPRT in man causes excessive de novo production of purines. When the enzyme deficiency is virtually complete, it is associated with the Lesch-Nyhan syndrome (LNS) (3,4), when partial, it is associated with severe gout (5).
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© 1974 Plenum Press, New York
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Zoref, E., Sperling, O., de Vries, A. (1974). Stabilization by PRPP of Cellular Purine Phosphoribosyltransferases Against Inactivation by Freezing and Thawing. Study of Normal and Hypoxanthine-Guanine Phosphoribosyltransferase Deficient Human Fibroblasts. 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_2
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DOI: https://doi.org/10.1007/978-1-4684-3294-7_2
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4684-3296-1
Online ISBN: 978-1-4684-3294-7
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