Abstract
Dihydropyrimidine dehydrogenase (EC 1.3.1.2) deficiency has so far been reported in 8 patients, 7 of which were diagnosed in The Netherlands1–5. The patients did not exhibit a characteristic clinical picture, although a form of epilepsy was seen in half of the patients. The other 4 patients were below the age of 4 years at the time of diagnosis. Therefore, it cannot be excluded that epileptic symptoms will develop later on. All patients were-discovered by the increased excretion of thymine and uracil. In most of the cases also an elevated excretion of 5-hydroxymethyluracil (5-HMU) was present.
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References
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van Gennip, A.H., Abeling, N.G., Elzinga-Zoetekouw, L., Scholten, L.G., van Cruchten, A., Bakker, H.D. (1989). Comparative Study of Thymine and Uracil Metabolism in Healthy Persons and in a Patient with Dihydropyrimidine Dehydrogenase Deficiency. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_17
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DOI: https://doi.org/10.1007/978-1-4684-5673-8_17
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