Enzyme which catalyses the "salvage" reactions of free purine bases hypoxanthine and guanine with PRPP to form their respective mononucleotides.
Deficiency of the enzyme leads to under utilization of PRPP, an excess of which drives, through complex purine interconversions, the formation of supernormal amounts of hypoxanthine and xanthine, the precursors of uric acid. More than 200 different mutations have been described, leading to overproduction of uric acid, and its complications alone, or to hyperuricemia with unexplained neurological and behavioral disturbances. (See Lesch-Nyhan syndrome)
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