Abstract
The deficiency of hypoxanthine guanine-phosphoribosyltransferase (HGPRT) activity of patients with the Lesch-Nyhan syndrome is accompanied by an accelerated rate of purine biosynthesis de novo. This elevated rate of purine biosynthesis is reflected in fibroblasts cultured from the skin of these patients and is accompanied by elevated levels of phosphoribosylpyrophosphate (PRPP).
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References
Reem, G.H. (1972) J.Clin.Invest. 51, 1058–1062.
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© 1974 Plenum Press, New York
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Reem, G.H. (1974). Regulation of de novo Purine Synthesis in the Lesch-Nyhan Syndrome. 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_30
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DOI: https://doi.org/10.1007/978-1-4684-3294-7_30
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