Dihydropyrimidine dehydrogenase deficiency

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Dihydropyrimidine dehydrogenase deficiency

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Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is a condition in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase. Individuals with this condition may develop life-threatening toxicity following exposure to 5-fluorouracil (5-FU), a chemotherapy drug that is used in the treatment of cancer.

Current research suggests that nearly 8% of the population has at least partial DPD deficiency. A diagnostics determination test for DPD deficiency is available and it is expected that with a potential 500,000 people in North America using 5-FU this form of testing will increase.


For a thorough scientific overview of Dihydropyrimidine dehydrogenase deficiency, one can consult chapter 91 of OMMBID[1]. For more online resources and references, see inborn errors of metabolism.


References


  • van Kuilenburg A (2006). "Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question.". Cancer Invest 24 (2): 215-7. PMID 16537192.
  • Lee A, Ezzeldin H, Fourie J, Diasio R (2004). "Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-Fluorouracil therapy.". Clin Adv Hematol Oncol 2 (8): 527-32. PMID 16163233.

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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