Abstract
In man pyrimidines are degraded in four steps catalysed by dihydropyrimidine dehydrogenase (DHPD, EC 1. 3. 1. 2.), dihydropyrimidinase (DHP, EC 3. 5. 2. 2.), ureidopropionase (UP, EC 3. 5. 1. 6.) and a transaminase (Fig. 1). As yet only deficiencies of the first and the last enzymes have been described. Deficiency of R-ß-aminoisobutyrate aminotransferase (EC 2. 6. 1. 22.) is easily detected by classical amino acid analysis 1’2,DHPD-deficiency by TLC or HPLC of pyrimidines in urine3. A method is presented for the detection of the two other defects.
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References
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© 1991 Plenum Press, New York
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van Gennip, A.H., Busch, S., Scholten, E.G., Stroomer, L.E., Abeling, N.G. (1991). Simple Method for the Quantitative Analysis of Dihydropyrimidines and N-Carbamyl-ß-Amino Acids in Urine. In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_4
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DOI: https://doi.org/10.1007/978-1-4615-7703-4_4
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