The Clinical Aspects of APRT Deficiency

  • U. Gresser
  • B. S. Gathof
Conference paper

Abstract

Adenine phosphoribosyltransferase (APRT) deficiency was first detected and described by Kelley et al. in 1968. The patient, presenting with a disorder of the lipoprotein metabolism, was planned to participate as one of the control series in a study of HGPRT and APRT activities in patients with gouty arthritis and nephrolithiasis. His APRT activity was reduced to about 25% of the normal value; this was also the case in his two daughters and his mother. All of them were clinically asymptomatic. The first two patients with complete APRT deficiency were reported by Cartier and Hamet in 1974 and by Simmonds et al. in 1976. Excretion of the purine metabolite 2,8-dihydroxyadenine (2,8-DHA) was detected as the source of crystalluria and nephrolithiasis in these patients.

Keywords

Uric Acid Renal Colic Gouty Arthritis Uric Acid Stone Infrared Spectrophotometry 
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

© Springer Verlag, Berlin Heidelberg 1993

Authors and Affiliations

  • U. Gresser
  • B. S. Gathof

There are no affiliations available

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