Department of Oriental Pharmaceutical Sciences, Kyung Hee East-West Pharmaceutical Research Institute, College of Pharmacy, Kyung Hee University, Seoul, South Korea.
J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Jul 15;879(22):2171-4. doi: 10.1016/j.jchromb.2011.05.023. Epub 2011 May 23.
A high-performance ligand-exchange chromatography with ultraviolet detection method for confirmation diagnosis of maple syrup urine disease (MSUD) was developed that relies on the determination of branched-chain amino acids (BCAAs) and Phe levels in blood. The dynamic ranges for the BCAAs and Phe were 50-1000 μM (r(2)=0.9982-0.9996) and 74-873 μM (r(2)=0.9992) from a dried blood spot, and the BCAA detection limits (S/N=3) were 0.43-1.91 μM. The mean recoveries of BCAA for intra- and inter-day assays were 92.1-103.0%. The ranges of alloisoleucine (Allo-Ile)/Phe ratio were ND-0.04 and 1.5-2.4 for PKU and MSUD patient samples, respectively. The lowest ratio (1.5) of the MSUD samples was 37.5 times higher than the highest ratio (0.04) of the PKU samples. Therefore, the Allo-Ile/Phe ratio was very useful biomarker for confirmation diagnosis of MSUD.
建立了一种高效的配体交换色谱-紫外检测法，用于确认诊断枫糖尿症（MSUD），该方法依赖于血液中支链氨基酸（BCAA）和苯丙氨酸水平的测定。从干血斑中，BCAA 和 Phe 的动态范围分别为 50-1000 μM（r²=0.9982-0.9996）和 74-873 μM（r²=0.9992），BCAA 的检测限（S/N=3）为 0.43-1.91 μM。BCAA 日内和日间测定的平均回收率为 92.1-103.0%。PKU 和 MSUD 患者样本的 Allo-Ile/Phe 比值范围分别为 ND-0.04 和 1.5-2.4。MSUD 样本的最低比值（1.5）比 PKU 样本的最高比值（0.04）高 37.5 倍。因此，Allo-Ile/Phe 比值是 MSUD 确诊诊断的非常有用的生物标志物。
