Skip to main content
Log in

Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism

  • Short Communication
  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Berger, R., Stoker-deVries, S. A., Wadman, S. K., Duran, M., Beemer, F. A., de Bree, P. K., Weits-Binnerts, J. J., Penders, T. J. and van der Woude, J. K. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.Clin. Chim. Acta 140 (1984) 247–256

    PubMed  Google Scholar 

  • de Bree, P. K., Wadman, S. K., Duran, M. and Fabery de Jonge, H. Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography and by automated cation exchange column chromatography of purines.Clin. Chim. Acta 156 (1986) 279–288

    PubMed  Google Scholar 

  • Diasio, R. B., Beavers, T. L. and Carpenter, J. T. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.J. Clin. Invest. 81 (1988) 47–51

    PubMed  Google Scholar 

  • Kautz, J. and Schnackerz, K. D. Purification and properties of 5,6-dihydropyrimidine and amidohydrolase from calf liver.Eur. J. Biochem. 181 (1989) 431–435

    PubMed  Google Scholar 

  • Tuchman, M., Roemeling, R. V., Hrushesky, W. A. M., Sothern, R. B. and O'Dea, R. F. Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells.Enzyme 42 (1989) 15–24

    PubMed  Google Scholar 

  • 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 van der 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

    Google Scholar 

  • Wadman, S. K., Duran, M. and Dorland, L. Biochemical diagnosis of inherited metablic diseases. In Kotyk, A. (ed.),Highlights in Modern Biochemistry, VSP, Zeist, vol. 2 (1989) 1379–1392

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Duran, M., Rovers, P., de Bree, P.K. et al. Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inherit Metab Dis 14, 367–370 (1991). https://doi.org/10.1007/BF01811705

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01811705

Keywords

Navigation