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Familial Xanthinuria in a Large Kindred: Purine Metabolites in Plasma and Urine of Xanthinurics, Siblings and Normal Subjects

  • J. Costello
  • E. Al-Dabagh
  • M. Bentley
  • N. Fituri
  • A. Watson
  • B. Keogh
Conference paper

Abstract

Xanthinuria is a rare hereditary defect where there is a gross deficiency of the enzyme xanthine oxidase. This results in hypo-uricemia, hypouricosuria and increased serum and urinary xanthine and hypoxanthine. More than forty cases have now been reported in the literature1,2 and these have recently been reviewed2. We report a further 3 cases of xanthinuria, 2 brothers and a sister. The discovery of a case of familial xanthinuria provided a unique opportunity to study purine metabolism in the patients, their parents and siblings.

Keywords

Uric Acid Urinary Oxalate Oxalate Excretion Clearance Ratio Urinary Oxalate Excretion 
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 1985

Authors and Affiliations

  • J. Costello
    • 1
    • 2
  • E. Al-Dabagh
    • 1
    • 2
  • M. Bentley
    • 1
    • 2
  • N. Fituri
    • 1
    • 2
  • A. Watson
    • 1
    • 2
  • B. Keogh
    • 1
    • 2
  1. 1.The Irish Stone Foundation Meath HospitalDublinIreland
  2. 2.The Renal Research LaboratoryAllegheny General HospitalPittsburghUSA

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