Purine Nucleotide Restoration in HPRT- Cells
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Lesch-Nyhan syndrome is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) (1, 2). This enzyme catalyzes the conversion of the purine bases hypoxanthine and guanine to their respective 5′ribo-nucleotides. It is reasonable to assume that a deficiency of HPRT would cause a decrease in the cellular concentrations of purine nucleotides, although such a decrease has not been demonstrated in nucleated HPRT cells.
KeywordsAdenine Nucleotide Guanine Nucleotide Purine Nucleotide Sodium Formate Phosphoribosyl Pyrophosphate
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- 8.P. S. Newcombe, M. Lapes, C. Thomsen, and E. Y. Wright, Urinary excretion of 5-amino-4-imidazole carboxamide in X-linked primary hyperuricemia, Clin. Res. 15: 45 (1967)Google Scholar