Abstract This review discusses the development of capillary electrophoresis with laser-induced detection and mass spectrometry techniques for the analysis of urinary oligosaccharides to screen for human oligosaccharidoses and related disorders. Capillary electrophoresis is suitable for the analysis of urinary oligosaccharides. It has a high resolution efficiency, and when it is coupled to a laser-induced fluorescence detector system, it offers an optimal analytical sensitivity. Mass spectrometry techniques have evolved as powerful tools for glycan analyses, are important tools for the analysis of oligosaccharide structures, and offer precise results, analytical versatility, very high sensitivity, high precision and high speed. Mass spectrometry is tolerant of mixtures and is a natural choice for the analysis of this class of molecules. The urine oligosaccharide profiles from healthy controls and patients diagnosed with different lysosomal storage diseases (fucosidosis, α-mannosidosis, GM1 gangliosidosis, GM2 gangliosidosis type Sandhoff, glycogen storage disease type 2 and 3, aspartylglucosaminuria, Schindler disease and galactosialydosis) and related disorders (glycogen storage diseases) are presented. In summary, these procedures are powerful tools for the rapid identification and characterization of these disorders. In all cases, the oligosaccharide profiles are strongly informative, identified the abnormal compounds, and are good alternatives to traditional screening tests that use thin layer chromatography. These tests have great sensibility and resolution and are automatable, enabling extended screening of these diseases, both as a first step in diagnosis or for confirming the pathogenicity of mutations that may be detected with next generation sequencing techniques.

中文翻译：

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用于诊断寡糖症的尿寡糖试验

摘要 本综述讨论了毛细管电泳与激光诱导检测和质谱技术的发展，用于分析尿寡糖以筛查人类寡糖症和相关疾病。毛细管电泳适用于尿低聚糖的分析。它具有高分辨率，当它与激光诱导荧光检测器系统耦合时，可提供最佳的分析灵敏度。质谱技术已发展成为聚糖分析的强大工具，是分析寡糖结构的重要工具，可提供精确的结果、分析的多功能性、极高的灵敏度、高精度和高速。质谱可以容忍混合物，是分析此类分子的自然选择。健康对照和诊断为不同溶酶体贮积症（岩藻糖苷贮积症、α-甘露糖苷贮积症、GM1 神经节苷脂贮积症、GM2 型 Sandhoff 型糖原贮积症、2 型和 3 型糖原贮积症、天冬氨酸葡萄糖胺尿症、辛德勒病和半乳糖醛酸血症）和相关疾病（糖原贮积症）的患者的尿液寡糖谱贮藏病）。总之，这些程序是快速识别和表征这些疾病的有力工具。在所有情况下，寡糖谱都具有很强的信息性，可以识别异常化合物，并且是使用薄层色谱的传统筛选测试的良好替代品。这些测试具有很高的灵敏度和分辨率，并且是自动化的，能够对这些疾病进行扩展筛查，