Dihydropyrimidine dehydrogenase deficiency

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.