Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism
| Autor: | J. J. Weits-Binnerts, T. J. Penders, Rudolphus Berger, Marinus Duran, J. K. van der Woude, P.K. De Bree, Sybe K. Wadman, Frits A. Beemer, S. A. Stoker-de Vries |
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| Rok vydání: | 1984 |
| Předmět: |
Male
Orotic acid Purine-Pyrimidine Metabolism Inborn Errors Pyrimidine Adolescent Stereochemistry Clinical Biochemistry Pyrimidine metabolism Thymine-uraciluria 5-Hydroxymethyluracil Biology Biochemistry Mass Spectrometry Geneeskunde Pentoxyl chemistry.chemical_compound Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase Leucocytes Genetics medicine Leukocytes Humans Child Uracil Genetics (clinical) Dihydrouracil Dehydrogenase (NADP) Biochemistry (medical) General Medicine Thymine-Uraciluria Purine/pyrimidine metabolism medicine.disease Thymine chemistry Dihydropyrimidinase Child Preschool Female Chromatography Thin Layer Oxidoreductases medicine.drug |
| Zdroj: | Clinica Chimica Acta, 141(2-3), 227. Elsevier |
| ISSN: | 0009-8981 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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