Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is a condition in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. 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.

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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

1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. - Summaries of 255 chapters, full text through many universities. There is also the OMMBID blog.

• 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.