Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency
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Dihydropyrimidine dehydrogenase (EC 184.108.40.206) 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.
KeywordsIndex Patient Dihydropyrimidine Dehydrogenase Pyrimidine Metabolism Aminoisobutyric Acid Elevated Excretion
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- 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.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
- 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.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.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
- 11.K. Fink, Excretion of pyrimidine reduction products by the rat, J. Biol. Chem. 218: 9 (1955).Google Scholar