[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].

  title={[2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy].},
  author={Hassan Bouzidi and Bernard Lacour and Michel Daudon},
  journal={Annales de biologie clinique},
  volume={65 6},
Adenine phosphoribosyltransferase (APRT, EC deficiency is an enzymopathy of purine metabolism, which is inherited as an autosomal recessive trait. APRT is a salvage enzyme that normally catalyzes the conversion of adenine to adenosine monophosphate. APRT deficiency results in adenine accumulation with oxidation by xanthine dehydrogenase (XDH; EC to 2,8-dihydroxyadenine (2,8-DHA) then excreted in urine. This compound is extremely insoluble and its crystallization can lead to… CONTINUE READING


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