Advertisement

Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency

  • Albert H. van Gennip
  • Nico G. Abeling
  • Lida Elzinga-Zoetekouw
  • Liny G. Scholten
  • Arno van Cruchten
  • Henk D. Bakker
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

Dihydropyrimidine dehydrogenase (EC 1.3.1.2) deficiency has so far been reported in 8 patients, 7 of which were diagnosed in The Netherlands1–5. The patients did not exhibit a characteristic clinical picture, although a form of epilepsy was seen in half of the patients. The other 4 patients were below the age of 4 years at the time of diagnosis. Therefore, it cannot be excluded that epileptic symptoms will develop later on. All patients were-discovered by the increased excretion of thymine and uracil. In most of the cases also an elevated excretion of 5-hydroxymethyluracil (5-HMU) was present.

Keywords

Index Patient Dihydropyrimidine Dehydrogenase Pyrimidine Metabolism Aminoisobutyric Acid Elevated 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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    A.H. van Gennip, E.J. van Bree-Blom, S.K. Wadman, M. Duran and F.A. Beemer, HPLC of urinary pyrimidines for the evaluation of primary and secundary abnormalities of pyrimidine metabolism, in: Biological biomedical applications of liquid chromatography III, p. 285–296, G.L. Hawk, ed; Marcel Dekker Inc., New York and Basel, 1982.Google Scholar
  2. 2.
    R. Berger, S.A. Stoker-devries, S.K. Wadman, M. Duran, F.A. Beemer, P.K. de Bree, J.J. Weits-Binnerts, T.J. Penders and J.K. van der Woude, Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria: An inborn error of pyrimidine metabolism, Clin. Chim. Acta 141: 227 (1984).PubMedCrossRefGoogle Scholar
  3. 3.
    J.A.J.M. Bakkeren, R.A. de Abreu, R.C.A. Sengers, F.J.M. Gabreëls, J.M. Maas and W.O. Renier, Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency, Clin. Chim. Acta 140: 247 (1984).PubMedCrossRefGoogle Scholar
  4. 4.
    B. Wilcken, J. Hammond, R. Berger, G. Wise and C. James, Dihydropyri-midine dehydrogenase deficiency — A further case, J. Inner. Metab. Dis. 8 (Suppl. 2): 115 (1985).CrossRefGoogle Scholar
  5. 5.
    A.H. van Gennip, H.D. Bakker, A. Zoetekouw, N.G.G.M. Abeling, A new case of thymine-uraciluria, Klin. Wochenschr. 65 (Suppl. X): 14 (1987).Google Scholar
  6. 6.
    A.H. van Gennip, D.Y. van Noordenburg-Huistra, P.K. de Bree and S.K. Wadman, Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism, Clin. Chim. Acta 86: 7 (1978).Google Scholar
  7. 7.
    A.H. van Gennip, Screening for inborn errors of purine and pyrimidine metabolism by bidimensional TLC and HPLC, in: Handbook of Chromatography, Nucleic Acids and Related Compounds, vol. I, Part A, p. 221–246, A.M. Krstulovic, ed.; CRC Press Inc., Boca Raton, Florida, 1987.Google Scholar
  8. 8.
    A.H. van Gennip, E.J. van Bree-Blom, N.G.G.M. Abeling, A.J. van Erven and P.A. Voûte, β-aminoisobutyric acid as a marker of thymine catabolism in malignancy, Clin. Chim. Acta 165: 365 (1987).PubMedCrossRefGoogle Scholar
  9. 9.
    J.P. Braakhekke, W.O. Renier, F.J.M. Gabreëls, R.A. Abreu, J.A.J.M. Bakkeren and R.C.A. Sengers, Dihydropyrimidine dehydrogenase deficiency. Neurological Aspects, J. Neurol. Sci. 78: 71 (1987).PubMedCrossRefGoogle Scholar
  10. 10.
    T. Shiotani and G. Weber, Purification and properties of dihydrothymine dehydrogenase from rat liver, J. Biol. Chem. 256: 219 (1981).PubMedGoogle Scholar
  11. 11.
    K. Fink, Excretion of pyrimidine reduction products by the rat, J. Biol. Chem. 218: 9 (1955).Google Scholar

Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • Albert H. van Gennip
    • 1
  • Nico G. Abeling
    • 1
  • Lida Elzinga-Zoetekouw
    • 1
  • Liny G. Scholten
    • 1
  • Arno van Cruchten
    • 1
  • Henk D. Bakker
    • 1
  1. 1.Children’s Hospital‘Het Emma Kinderziekenhuis’AmsterdamThe Netherlands

Personalised recommendations