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Science 16 March 1973:
Vol. 179. no. 4078, pp. 1123 - 1126
DOI: 10.1126/science.179.4078.1123
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Articles

Purine Overproduction in Man Associated with Increased Phosphoribosylpyrophosphate Synthetase Activity

Michael A. Becker 1, Laurence J. Meyer 1, Alexander W. Wood 1, and J. Edwin Seegmiller 1

1 Department of Medicine, University of California, San Diego, La Jolla 92037

In hemolyzates from red cells of two brothers with purine overproduction and gout, activity of phosphoribosylpyrophosphate synthetase is more than twofold greater than that measured in normal or other gouty individuals. The increased enzyme activity, which is also demonstrable in fibroblasts of the one patient tested, is associated with increased production of 5-phosphoribosyl-1-pyrophosphate by intact cells, an indication that the enzyme abnormality is the basis for the purine overproduction. This genetic abnormality is an example of an increased enzyme activity producing a disease state.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Accelerated Transcription of PRPS1 in X-linked Overactivity of Normal Human Phosphoribosylpyrophosphate Synthetase.
M. Ahmed, W. Taylor, P. R. Smith, and M. A. Becker (1999)
J. Biol. Chem. 274, 7482-7488
   Abstract »    Full Text »    PDF »
Overexpression of the Normal Phosphoribosylpyrophosphate Synthetase 1Isoform Underlies Catalytic Superactivity of Human Phosphoribosylpyrophosphate Synthetase.
M. A. Becker, W. Taylor, P. R. Smith, and M. Ahmed (1996)
J. Biol. Chem. 271, 19894-19899
   Abstract »    Full Text »    PDF »
Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.
M. Becker, R. Yen, P Itkin, S. Goss, J. Seegmiller, and B Bakay (1979)
Science 203, 1016-1019
   Abstract »    PDF »
Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome.
G. Reem (1975)
Science 190, 1098-1099
   Abstract »    PDF »


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