Autoradiography with labeled substrates on cultured fibroblasts has been used to visualize HG-PRT deficiency: cells of deficient individuals lack the ability to incorporate hypoxanthine or guanine into nucleic acids, because these purine bases can not be converted to their corresponding mononucleotides (1,2). The alternative pathway to form IMP or GMP via inosine or guanosine is not likely, for, although nucleoside phosphorylase is present, there is no definite evidence for the existence of inosine- or guanosine kinase in human cells (3,4).
Purine Metabolism Purine Base Label Substrate Deficient Individual Heavy Label
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