Summary
We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bakkeren, J.A.J.M., De Abreu, R.A., Sengers, R.C.A., Gabreels, F.J.M., Maas, J.M. and Renier, W.O. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydropyrimidine dehydrogenase deficiency.Clin. Chim. Acta 140 (1984) 247–256
Berger, R., Stoker-de Vries, S.A., Wadman, S.K., Duran, M., Beemer, F.A., de Bree, P.K., Weits-Binnerts, J.J., Penders, T.J., and v.d. Woude, J.K. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.Clin. Chim. Acta 141 (1984) 227–234
Berglund, G., Greter, J., Lindstedt, S., Steen, G., Waldenstroem, J. and Wass, U. Urinary excretion of thymine and uracil in a two-year-old child with a malignant tumor of the brain.Clin. Chem. 25 (1979) 1325–1328
Brockstedt, M. and Sokka, T.A. Populationsgenetische Untersuchungen zur Ausscheidung von Betaaminoisobuttersaeure im Urin Neugeborener. Thesis, Free University Berlin (1980)
Diasio, R.B., Beavers, T.L. and Carpenter, J.T. Familial deficiency of dihydropyrimidine dehydrogenase.J. Clin. Invest. 81 (1988) 47–51
Goedde, H.W., Hoffbauer, R. and Blume, K.-G. Reduction of thymine by leucocytes.Biochem. Genet. 2 (1968) 93–99
Piper, A.A., Tattersall, M.H.N. and Fox, R.M. The activities of thymidine metabolising enzymes during the cell cycle of a human lymphocyte cell line LA7-007 synchronized by centrifugal elutriation.Biochim. Biophys. Acta 633 (1980) 400–409
Shiotani, T. and Weber, G. Purification and properties of dihydrothymine dehydrogenase from rat liver.J. Biol. Chem. 256 (1981) 219–224
van Gennip, A.H., van Bree-Blom, E.J., Wadman, S.K., Duran, M. and Beemer, F.A. Liquid chromatography of urinary pyrimidines for the evaluation of primary and secondary abnormalities of pyrimidine metabolism. In Hawk, G.L., Champlin, P.B., Hutton, R.F. and Mol, C. (eds.)Biological/Biomedical Applications of Liquid Chromatography III, Marcel Dekker Inc., New York and Basel, 1981a, pp. 285–296
van Gennip, A.H., Kamerling, J.P., de Bree, P.K. and Wadman, S.K. Linear relationship between theR andS enantiomers of beta-amino-isobutyric acid in human urine.Clin. Chim. Acta 116 (1981b) 261–268
van Gennip, A.H., Bakker, H.D., Zoetekomer, A. and Abeling, N.G.G.M. A new case of thymine-uraciluria.Klin. Wochenschr. 65, Suppl. X (1987a) 14
van Gennip, A.H., van Bree-Blom, E.J., Abeling, N.G.G.M., van Erven, A.J. and Voute, P.A. Beta-aminoisobutyric acid as a marker of thymine catabolism in malignancy.Clin. Chim. Acta 165 (1987b) 365–377
Wadman, S.K., Berger, R., Duran, M., de Bree, P.K., Stoker-de Vries, S.A., Beemer, F.A., Weits-Binnerts, J.G., Penders, T.J., and v.d. Woude, J.K. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.J. Inher. Metab. Dis. 8, Suppl. 2 (1985) 113–114
Wilcken, B., Hammond, J., Berger, R., Wise, G. and James, C. Dihydropyrimidine dehydrogenase deficiency — a further case.J. Inher. Metab. Dis. 8, Suppl. 2 (1985) 115–116
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Brockstedt, M., Jakobs, C., Smit, L.M.E. et al. A new case of dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 13, 121–124 (1990). https://doi.org/10.1007/BF01799339
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01799339