A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme.
Two male patients with urate overexcretion and clinical gout in a family showed activity of phosphoribosylpyrophosphate (PRPP) synthetase in erythrocyte lysates (3.1-fold) greater than that found in normal subjects. Hemolysates from 5 female persons in this family contained (2.7-fold) increased enzyme activity suggesting X-linked dominant transmission of the abnormality. Increased maximal velocity of the enzyme, aberrant protein pattern in polyacrylamide electrophoresis, and increased thermolability in purified enzyme suggested that this enzyme is a mutant one. From these findings, it was assumed that the characteristics of this enzyme were different from 4 previously reported enzymes.
D000244:Adenosine Diphosphate / Q000494:pharmacology; D000328:Adult; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006073:Gout / Q000235:genetics* / Q000378:metabolism; D006153:Guanosine Diphosphate / Q000494:pharmacology; D006358:Hot Temperature; D006801:Humans; D007525:Isoelectric Focusing; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D008968:Molecular Conformation; D010770:Phosphotransferases / Q000378:metabolism*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000097:blood / Q000302:isolation & purification / Q000378:metabolism*
D006153:Guanosine Diphosphate; D000244:Adenosine Diphosphate; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase