[A case of right ureteral stone with complete deficiency of adenine phosphoribosyltransferase].
We report a case of a 34-year-old male, who had urinary tract calculus, caused by complete deficiency of adenine phosphoribosyltransferase. Ureterolithotomy was performed on February 28, 1983. Infrared spectroanalysis revealed a 2,8-dihydroxyadenine calculus. APRT activity was less than 1% of the normal level, and it was found to be complete deficiency of APRT. Since the operation, 300 mg/day of allopurinol is being administered without any sign of recurrence.
D000225:Adenine / Q000031:analogs & derivatives / Q000032:analysis; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000328:Adult; D001774:Blood Chemical Analysis; D006801:Humans; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D014057:Tomography, X-Ray Computed; D014514:Ureteral Calculi / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*
C002993:2,8-dihydroxyadenine; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine