<unk>  is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of<unk><unk> , 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.
Dihydropyrimidine dehydrogenase deficiency
Purine nucleoside phosphorylase deficiency
Adenine phosphoribosyltransferase deficiency
Dihydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency
Enolase deficiency
Ribose-5-phosphate isomerase deficiency
Glutaminase deficiency