Abstract
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is a purine salvage enzyme which catalyzes the conversion of hypoxanthine and guanine to their respective mononucleotide forms, inosine 5’ monophosphate and guanosine 5’ monophosphate. A deficiency of HPRT in humans has two distinct clinical consequences. Complete deficiency is associated with the Lesch-Nyhan syndrome, a disease characterized by hyperuricemia, hyperuricaciduria, spasticity, choreathetosis, and a bizarre tendency to self-mutilate. Partial HPRT deficiency leads to severe precocious gout.
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References
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© 1991 Plenum Press, New York
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Davidson, B.L., Roessler, B.J., Palella, T.D. (1991). Expression of Normal and Variant Human Hypoxanthine-Guanine Phosphoribosyltransferase in E. Coli. 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_23
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_23
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