Abstract
The number of known inherited defects of pyrimidine metabolism is small. At least for a part this may be due to the fact that there is no typical end product, such as uric acid in purine metabolism. Furthermore, urinary pyrimidines are not easily accessible for simple chromatographic screening. However, metabolites such as uracil, thymine and orotic acid can be detected with the routine gas-liquid chromatography procedure for organic acids using ethyl acetate extraction and trimethylsilylation (Wadman et al., 1984) if their concentrations are strongly elevated. By this method we established a persistently excessive excretion of thymine and uracil in a 4-year-old boy, whose urine was screened for inborn errors of metabolism. Later another patient was discovered in the same way. In a third patient the same abnormality was found using 2-dimensional thin layer chromatography according to van Gennip et al. (1978). This metabolite profile suggested a deficiency of dihydropyrimidine dehydrogenase (EC 1.3.1.2) (DHPDH) as the underlying defect.
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Wadman, S.K. et al. (1985). Dihydropyrimidine Dehydrogenase Deficiency Leading to Thymine-uraciluria. An Inborn Error of Pyrimidine Metabolism. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_28
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DOI: https://doi.org/10.1007/978-94-011-8019-1_28
Publisher Name: Springer, Dordrecht
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