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Genetic and Rare Diseases Information Center (GARD)

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Dihydropyrimidine dehydrogenase deficiency

Other Names for this Disease
  • DPD deficiency
  • Familial pyrimidinemia
  • Hereditary thymine-uraciluria
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Your Questions Answered

3 question(s) from the public on this disease have been answered. Submit a new question.
  • My doctor has prescribed Fluorouracil to treat pre-cancerous spots on my hands. To my knowledge, I don't have any family history of dihydropyrimidine dehydrogenase (DPD) deficiency, but I have read that up to 8% of the population has some form of this, which can be problematic when Fluorouracil is used. Should I be tested prior to use and is there an alternative course of treatment?  Click here for answer

  • I recently found out I was a carrier. I would like to be clear that I can only pass the disease on to a child if the father is also a carrier. Lastly I am still a little confused when it comes to how it affects exposure to 5-fluorouracil. Does this mean that if I were to get cancer in the future I would not be able to be treated with chemotherapy? Click here for answer

  • I am interested in finding out information related to dihydropyrimidine dehydrogenase (DPD) in children - I am not interested in the form that presents after exposure to the cancer drug 5-fluorouracil. My son is about to turn 5 years old and was diagnosed with DPD at 4 months. Are there any specific articles that speak about infants and children that suffer from the deficiency? Click here for answer