Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.

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.