Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency
Other namesDPD deficiency
Dihydropyrimidine dehydrogenase deficiency has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics, endocrinology 

Dihydropyrimidine dehydrogenase 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. Beside 5-FU, widely prescribed oral fluoropyrimidine capecitabine (Xeloda) could put DPD-deficient patients at risk of experiencing severe or lethal toxicities as well.

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