Minniti G, Caruso U, Cerone R, de Toni E
Laboratory for the Study of Stand. Verif. Metabolic Disease, G. Gaslini Institute-University, Department of Pediatrics I, Genova, Italy.
Adv Exp Med Biol. 1998;431:843-8. doi: 10.1007/978-1-4615-5381-6_162.
Single purine and pyrimidine bases are involved in two fundamental metabolic pathways that lead to formation of the building stones of DNA and RNA. Purine and pyrimidine nucleotides are also critically important metabolites in many cellular functions. The main breakdown of purines and pyrimidines produces uric acid and B-minoacids, respectively. Therefore, the study of purine and pyrimidine compounds in body fluid has high clinical relevance. We report, in this work, our experience in purines and pyrimidines determination in urine from children presenting with a clinical picture suggesting an inborn these pathways.
单个嘌呤和嘧啶碱基参与两条基本的代谢途径,这些途径导致DNA和RNA构建基石的形成。嘌呤和嘧啶核苷酸在许多细胞功能中也是至关重要的代谢物。嘌呤和嘧啶的主要分解产物分别是尿酸和β-氨基酸。因此,对体液中嘌呤和嘧啶化合物的研究具有很高的临床相关性。在这项工作中,我们报告了我们对临床症状提示先天性这些途径的儿童尿液中嘌呤和嘧啶测定的经验。