Dihydropyrimidine dehydrogenase deficiency
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| Dihydropyrimidine dehydrogenase deficiency Classification and external resources |
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| OMIM | 274270 |
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| DiseasesDB | 29817 |
| MeSH | D054067 |
Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) is an autosomal recessive metabolic disorder 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.[1][2]
[edit] Genetic prevalence
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. Beside 5-FU, widely prescribed oral fluoropyrimidine capecitabine could put deficient patients at risk of severe toxicities.
It is more common among African-Americans than it is among Caucasians.[3]
[edit] 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. doi:. 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.
- ^ Saif MW, Seller S, Diasio RB (2008). "Atypical toxicity associated with 5-Fluororacil in a DPD-deficient patient with pancreatic cancer. Is ethnicity a risk factor?". JOP 9 (2): 226–9. PMID 18326935.
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