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Simple Screening Methods for Disorders of Purine Metabolism Using Dried Blood and or Urine Spots on Filter Paper

  • Y. Nishida
  • F. Takeuchi
  • T. Miyamoto
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT; E.2.4.2.8.) and adenine phosphoribosyltransferase (APRT; E.2.4.2.7.) function in the metabolic salvage of purines. Complete absence of the activity of HGPRT leads to the Lesch-Nyhan Syndrome, characterised by severe developmental, neurological and behavioural abnormalities and gout.1, 2 Partial deficiencies of the enzyme cause hyperuricaemia and severe gout.3 On the other hand, complete deficiency of the enzyme APRT is associated with urinary stones composed of 2, 8-dihydroxyadenine (2, 8-DHA).4 Although these enzyme deficiencies are extremely rare, an early diagnosis is required to prevent the renal damage.5, 6 Among patients with urolithiasis, an increased incidence of APRT deficiency is proposed.7

Keywords

Uric Acid High Pressure Liquid Chromatography Purine Nucleoside Phosphorylase Monobasic Potassium Phosphate Adenine Phosphoribosyltransferase 
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

  • Y. Nishida
    • 1
  • F. Takeuchi
    • 1
  • T. Miyamoto
    • 1
  1. 1.Department of Medicine and Physical TherapyUniversity of Tokyo School of MedicineTokyoJapan

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