Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome

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Science  12 Dec 1975:
Vol. 190, Issue 4219, pp. 1098-1099
DOI: 10.1126/science.171772


The activity of phosphoribosylpyrophosphate synthetase and the rate of phosphoribosylpyrophosphate accumulation are significantly increased in cultured lymphocytes of Lesch Nyhan patients deficient in hypoxanthine guanine phosphoribosyltransferase and in a clone of mutagen-induced, hypoxanthine guanine phosphoribosyltransferase deficient human lymphocytes. The increase in phosphoribosylpyrophosphate synthetase activity is the cause of the abnormally high cellular phosphoribosylpyrophosphate content and possibly of the purine overproduction described in this syndrome.