Abstract
Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is a, clinically heterogeneous, autosomal recessive disease. DPD (EC 1.3.1.2) catalyzes the first and rate-limiting step in the catabolism of uracil, thymine and the analogue 5-fluorouracil. Patients with a nearly complete enzyme defect show convulsive disorders in about 50% of cases whereas patients experiencing acute 5-fluorouracil toxicity usually show DPD enzymatic activities in the heterozygous range.1–9
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Vreken, P., van Kuilenburg, A.B.P., Meinsma, R., van Gennip, A.H. (1998). Dihydropyrimidine Dehydrogenase Deficiency. In: Griesmacher, A., Müller, M.M., Chiba, P. (eds) Purine and Pyrimidine Metabolism in Man IX. Advances in Experimental Medicine and Biology, vol 431. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5381-6_68
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DOI: https://doi.org/10.1007/978-1-4615-5381-6_68
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