Mutant phosphoribosylpyrophosphate synthetase in two gouty siblings with excessive purine production.
D000244:Adenosine Diphosphate / Q000494:pharmacology; D000249:Adenosine Monophosphate / Q000494:pharmacology; D002848:Chromatography, DEAE-Cellulose; D004789:Enzyme Activation; D004912:Erythrocytes / Q000187:drug effects / Q000201:enzymology; D005260:Female; D005994:Glycerophosphates / Q000494:pharmacology; D006073:Gout / Q000097:blood / Q000201:enzymology*; D006150:Guanine Nucleotides / Q000494:pharmacology; D006801:Humans; D007700:Kinetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D010428:Pentosephosphates; D010710:Phosphates / Q000494:pharmacology; D010756:Phosphoric Acids; D010770:Phosphotransferases / Q000037:antagonists & inhibitors / Q000378:metabolism*
D005994:Glycerophosphates; D006150:Guanine Nucleotides; D010428:Pentosephosphates; D010710:Phosphates; D010756:Phosphoric Acids; D000249:Adenosine Monophosphate; D000244:Adenosine Diphosphate; D010770:Phosphotransferases