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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dihydropyrimidine dehydrogenase deficiency


Other Names for this Disease
  • DPD deficiency
  • Hereditary thymine-uraciluria
  • Familial pyrimidinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children?

Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life.[1]
Last updated: 4/27/2010

References
  1. Kamatani N, Vincent MF, van den Berghe G. Purine and Pyrimidine Metabolism. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Emery and Rimoin's Principles and Practice of Medical Genetics. Philadelphia: Churchilll Livingstone; 2007;


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Dihydropyrimidine dehydrogenase deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Other Names for this Disease
  • DPD deficiency
  • Hereditary thymine-uraciluria
  • Familial pyrimidinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.