title: Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome.
abstract: 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.
mesh_terms: D002460:Cell Line; D002478:Cells, Cultured; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D010428:Pentosephosphates / Q000096:biosynthesis*; D010754:Phosphoribosyl Pyrophosphate / Q000096:biosynthesis*; D010770:Phosphotransferases / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000378:metabolism*
chemical_list: D010428:Pentosephosphates; D010754:Phosphoribosyl Pyrophosphate; D007041:Hypoxanthine Phosphoribosyltransferase; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase