Increased PP-ribose-P Synthetase Activity: A Genetic Abnormality Leading to Excessive Purine Production and Gout
In recent years, progress has been made in identifying some of the specific biochemical and genetic factors responsible for the excessive purine synthesis which contributes to the hyperuricemia of a substantial proportion of individuals with gout. Deficiency of glucose-6-phosphatase in Type I glycogen storage disease leads to excessive purine synthesis (1) as do both partial and severe deficiencies of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (2,3). Another hereditary abnormality of biochemistry has now been described in two families in which purine overproduction and clinical gout are associated with an increased, rather than a decreased, activity of a specific enzyme. The enzyme involved is PP-ribose-P synthetase (4,5).
KeywordsUric Acid Glycogen Storage Disease Synthetase Activity Increase Enzyme Activity Purine Synthesis
formyl glycinamide ribonucleotide
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