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Diagnosis of Genotypes for Adenine Phosphoribosyltransferase (APRT) Deficiency

  • Naoyuki Kamatani
  • Shoko Kuroshima
  • Chihiro Terai
  • Masayuki Hakoda
  • Kusuki Nishioka
  • Kiyonobu Mikanagi
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency is a cause of urolithiasis and renal failure (1, 2). Due to the deficiency of APRT, adenine cannot be converted to AMP, and adenine thus accumulated in the body is catabolized to 2, 8-dihydroxyadenine via xanthine oxidase. Since 2, 8-dihydroxyadenine is a quite insoluble material, it makes crystals in urine. Although mild cases develop urinary stones (3), renal failure requiring hemodialysis or renal transplantation could occur in severe cases (4, 5). Since this disease can successfully be treated with allopurinol, correct diagnosis is important (2).

Keywords

Mutant Allele Xanthine Oxidase Urinary Stone Mutant Enzyme Normal Enzyme Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Naoyuki Kamatani
    • 1
  • Shoko Kuroshima
    • 1
  • Chihiro Terai
    • 1
  • Masayuki Hakoda
    • 1
  • Kusuki Nishioka
    • 1
  • Kiyonobu Mikanagi
    • 1
  1. 1.Institute of RheumatologyTokyo Women’s Medical CollegeTokyoJapan

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