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Old 07-11-2010
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Most forms of gout are probably X-linked recessive with deficiencies in phosphoribosyl pyrophosphate (PRPP) synthase, the first step of purine synthesis . Some patients may have a partial deficiency of hypoxanthine-guanine phosphoribosyl transferase (HGPRTase), which salvages hypoxanthine and guanine by transferring the purine ribonucleotide of PRPP to the bases and forming inosinate and guanylate, respectively. In all of these patients, the hypoxanthine analogue allopurinol has two actions: (1) it inhibits xanthine oxidase, which catalyzes the oxidation of hypoxanthine to xanthine and then to uric acid stones and tissue deposits; and (2) it forms an inactive allopurinol ribonucleotide from PRPP in a reaction catalyzed by HGPRTase, thereby decreasing the rate of purine synthesis. In contrast, because of the total loss of HGPRTase activity in Lesch-Nyhan patients, the allopurinol ribonucleotide cannot be formed. Thus, PRPP levels are not decreased and de novo purine synthesis continues unabated. The gouty arthritis caused by urate crystal formation is relieved in Lesch-Nyhan patients, but their neurological symptoms (mental deficiency, self-mutilation with compulsive chewing of fingers and lips) are not.
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