Primary overproduction of urate caused by a partial deficiency of hypoxanthine-guanine phosphoribosyl transferase.
Inherited enzyme deficiencies are found in a small proportion of patients with gout who produce an excess of uric acid. The clinical, biochemical and therapeutic aspects of a case of hyperuricaemia caused by an atypical mutant hypoxanthine-guanine phosphoribosyl transferase are presented. Urate overproduction was moderate and controlled by allopurinol therapy.
D000328:Adult; D006073:Gout / Q000378:metabolism*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D008297:Male; D014527:Uric Acid / Q000096:biosynthesis*
D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase