Dihydropyrimidine dehydrogenase deficiency

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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. 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.

External links

• Online 'Mendelian Inheritance in Man' (OMIM) 274270
• dpd genotype testing (www.mdl-labs.com)
• DPD deficiency website (sells tests)