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pmid: 2624188
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.
Hypoxanthine Phosphoribosyltransferase, Lesch-Nyhan Syndrome, Humans, Fibroblasts, Purine Nucleotides, Cells, Cultured
Hypoxanthine Phosphoribosyltransferase, Lesch-Nyhan Syndrome, Humans, Fibroblasts, Purine Nucleotides, Cells, Cultured
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