Cansever M Serif, Erim F Bedia
Department of Pediatrics, Division of Metabolism, Cerrahpaşa Medical School, University of Istanbul, 34303 Cerrahpaşa, Istanbul, Turkey.
J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Apr 25;818(2):309-11. doi: 10.1016/j.jchromb.2005.01.007.
The presence of succinylacetone in urine or blood or amniotic fluid is pathognomonic of an inherited metabolic disorder, named tyrosinemia type I. We developed a capillary electrophoretic method for the fast analysis of succinylacetone in urine samples. The separation was performed at reversed polarity mode using either a cationic surfactant as the buffer additive, or a capillary coated with a positively charged polyelectrolyte. Under these conditions, urine samples were directly injected to the capillary without any pretreatment step. The utility of the method was demonstrated by the identification of succinyacetone in urine from patients with hereditary tyrosinemia type I. For all patients, diagnostic peaks at the expected migration times were detected. The developed method is rapid, simple, inexpensive, and suitable for the determination of succinylacetone in clinical urine samples.
尿液、血液或羊水中琥珀酰丙酮的存在是一种名为I型酪氨酸血症的遗传性代谢紊乱的特征性表现。我们开发了一种毛细管电泳方法用于快速分析尿液样本中的琥珀酰丙酮。分离在反相模式下进行，使用阳离子表面活性剂作为缓冲添加剂，或使用涂有带正电荷聚电解质的毛细管。在这些条件下，尿液样本无需任何预处理步骤即可直接注入毛细管。通过鉴定I型遗传性酪氨酸血症患者尿液中的琥珀酰丙酮证明了该方法的实用性。对于所有患者，在预期迁移时间检测到诊断峰。所开发的方法快速、简单、廉价，适用于临床尿液样本中琥珀酰丙酮的测定。
