[A Case of Right Ureteral Stone with Complete Deficiency of Adenine Phosphoribosyltransferase]
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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.
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Kamatani N, Terai C, Kuroshima S, Nishioka K, MIKANAGI K Hum Genet. 1987; 75(2):163-8.
PMID: 3817810 DOI: 10.1007/BF00591080.