Superactive initiator

Since the initial report by Drs. Sperling and de Vries and their colleagues, inherited superactivity of PRPP synthetase has become established as an unusual cause of purine overproduction, hyperuricemia, and gout in man. To date, detailed investigations of 7 families with superactive PRPP synthetase have been published, and I am aware of 4 additional families currently under study. In each family, the index cases have been males, and where studied, the patterns of inheritance of the enzyme aberrations have been consistent with X-linked transmission, reflecting the apparent structural basis of superactivity in each defective enzyme. 

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