Literature DB >> 4083207

[A case of right ureteral stone with complete deficiency of adenine phosphoribosyltransferase].

T Ito, T Sugimoto, M Maekawa, A Horii, R Yasumoto.   

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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Year:  1985        PMID: 4083207

Source DB:  PubMed          Journal:  Hinyokika Kiyo        ISSN: 0018-1994


  1 in total

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

Authors:  N Kamatani; C Terai; S Kuroshima; K Nishioka; K Mikanagi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

  1 in total

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