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[A Case of Right Ureteral Stone with Complete Deficiency of Adenine Phosphoribosyltransferase]

Overview
Journal Hinyokika Kiyo
Specialty Urology
Date 1985 Aug 1
PMID 4083207
Citations 1
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Abstract

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.

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Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.

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PMID: 3817810 DOI: 10.1007/BF00591080.