New Defects of Pyrimidine Metabolism

  • S. K. Wadman
  • F. A. Beemer
  • P. K. de Bree
  • M. Duran
  • A. H. van Gennip
  • D. Ketting
  • F. J. van Sprang
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

The number of inherited defects of the pyrimidine metabolism described so far is small, compared to that of the purine metabolism. Combined deficiency of orotate phosphoribosyltransferase (OPRT) (EC 2.4.2.10) and orotidine 5′-monophosphate decarboxylase (ODC) (EC 4.1.1.23), designated as type I hereditary orotic aciduria, presents with characteristic clinical features such as hypo-chromic anemia with a megaloblastic bone marrow and crystalluria. Only six patients have been described and, as far as we know, new cases have not been discovered recently. ODC deficiency with similar clinical phenomena and leading to increased urinary excretion of orotate and orotidine has been detected in only one patient (1). A third defect, a deficiency of pyrimidine 5′-nucleotidase (Py-5N). (EC 3.1.3.5.) in erythrocytes, is associated with chronic hemolytic anemia and prominent basophylic stippling of the erythrocytes due to accumulated pyrimidine nucleotides. An increasing number of patients have been reported, their detection being facilitated by the typical phenomena. We do not know whether the urinary pyrimidine profile in this condition is abnormal.

Keywords

High Performance Liquid Chromatography Pyrimidine Purine Nucleoside Pneumothorax 

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Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • S. K. Wadman
    • 1
  • F. A. Beemer
    • 1
  • P. K. de Bree
    • 1
  • M. Duran
    • 1
  • A. H. van Gennip
    • 2
  • D. Ketting
    • 1
  • F. J. van Sprang
    • 1
  1. 1.“Het Wilhelmina Kinderziekenhuis”University Children’s HospitalUtrechtThe Netherlands
  2. 2.“Het Emma Kinderziekenhuis”Children’s HospitalAmsterdamThe Netherlands

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