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Urolithiasis and Related Clinical Research pp 17–20Cite as

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

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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.

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Author information

Authors and Affiliations

  1. The Irish Stone Foundation Meath Hospital, Dublin, Eire, Ireland

    J. Costello, E. Al-Dabagh, M. Bentley, N. Fituri, A. Watson & B. Keogh

  2. The Renal Research Laboratory, Allegheny General Hospital, Pittsburgh, Pennsylvania, USA

    J. Costello, E. Al-Dabagh, M. Bentley, N. Fituri, A. Watson & B. Keogh

Authors
  1. J. Costello
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  2. E. Al-Dabagh
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  3. M. Bentley
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  4. N. Fituri
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  5. A. Watson
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  6. B. Keogh
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Editor information

Editors and Affiliations

  1. University Hospital, Erlangen, Federal Republic of Germany

    Paul O. Schwille

  2. Mayo Clinic, Rochester, Minnesota, USA

    Lynwood H. Smith

  3. The General Infirmary, Leeds, England

    William G. Robertson

  4. University Hospital, Bonn, Federal Republic of Germany

    Winfried Vahlensieck

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© 1985 Plenum Press, New York

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Costello, J., Al-Dabagh, E., Bentley, M., Fituri, N., Watson, A., Keogh, B. (1985). Familial Xanthinuria in a Large Kindred: Purine Metabolites in Plasma and Urine of Xanthinurics, Siblings and Normal Subjects. In: Schwille, P.O., Smith, L.H., Robertson, W.G., Vahlensieck, W. (eds) Urolithiasis and Related Clinical Research. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7272-1_4

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  • DOI: https://doi.org/10.1007/978-1-4684-7272-1_4

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-7274-5

  • Online ISBN: 978-1-4684-7272-1

  • eBook Packages: Springer Book Archive

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