Complete Adenine Phosphoribosyltransferase Deficiency with 2,8-Dihydroxyadenine Stone Formation

  • J. Joost
  • F. Schabel
  • W. Doppler
Part of the Fortschritte der Urologie und Nephrologie/Advances in Urology and Nephrology book series (2824, volume 16)

Abstract

In 1968 Kelley (1) described for the first time a patient with a partial adenine phosphoribosyltransferase (APRT) deficiency. Since that time many families have been found with this abnormality in,the heterozygous state. Though in some families gout could be detected, no consistent correlation with gout or hyperuricemia was noted. No clinical disorder has yet been found to be consistently associated with a partial deficiency of APRT. The incidence in the population has been estimated to be 0.5 to 1% (2).

Keywords

HPLC Creatinine Citrate Adenine Purine 

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References

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Copyright information

© Dr. Dietrich Steinkopff Verlag, GmbH & Co. KG, Darmstadt 1981

Authors and Affiliations

  • J. Joost
    • 1
  • F. Schabel
    • 2
  • W. Doppler
    • 3
  1. 1.Department of UrologyUniversitatsklinik InnsbruckInnsbruckAustria
  2. 2.Department of PediatricsUniversität InnsbruckAustria
  3. 3.Institut für Biochemie (Nat. Fak.)Universität InnsbruckAustria

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