Peelen G O, de Jong J G, Wevers R A
University Hospital Nijmegen, Department of Neurology, The Netherlands.
Clin Chem. 1994 Jun;40(6):914-21.
Analysis of urinary oligosaccharides by thin-layer chromatography (TLC) is used as screening procedure for 10 different lysosomal diseases. We tested the usefulness of HPLC in screening, using a CarboPac PA1 column (Dionex), pulsed amperometric detection (PAD), and post-column derivatization (PCD). Patterns from six types of oligosaccharidoses were compared with normal urinary patterns and with the TLC patterns. PAD appeared to be nonspecific and therefore is applicable only to desalted urine samples. PCD was more specific and applicable to nondesalted urine samples, albeit with a lower resolving power. Peaks in urines from oligosaccharidoses patients were identified on the basis of retention times of commercially available oligosaccharides or TLC bands after isolation and HPLC of the corresponding oligosaccharides. Abnormal oligosaccharide peaks were seen in urines from patients with alpha-mannosidosis, GM1-gangliosidosis (juvenile), GM2-gangliosidosis (Sandhoff disease), Pompe disease, and beta-mannosidosis. HPLC detected no abnormal oligosaccharides in urine from patients with fucosidosis. Although TLC is a simple and reliable screening procedure for detecting classical lysosomal diseases with oligosaccharide excretion, HPLC, by its higher resolution and possibility of quantification, can more generally be used for recognition of abnormal oligosaccharides or detection of increased excretion or content for known oligosaccharides in urine, other body fluids, and cells.
采用薄层色谱法（TLC）分析尿寡糖作为10种不同溶酶体疾病的筛查方法。我们使用CarboPac PA1柱（戴安公司）、脉冲安培检测（PAD）和柱后衍生化（PCD）测试了高效液相色谱法（HPLC）在筛查中的实用性。将六种类型的寡糖贮积症的图谱与正常尿图谱以及TLC图谱进行了比较。PAD似乎是非特异性的，因此仅适用于脱盐尿样。PCD更具特异性，适用于未脱盐尿样，尽管分辨能力较低。根据市售寡糖的保留时间或相应寡糖分离及HPLC后的TLC条带，确定寡糖贮积症患者尿液中的峰。在α-甘露糖苷贮积症、GM-1神经节苷脂贮积症（青少年型）、GM-2神经节苷脂贮积症（桑德霍夫病）、庞贝病和β-甘露糖苷贮积症患者的尿液中发现了异常寡糖峰。HPLC未在岩藻糖苷贮积症患者尿液中检测到异常寡糖。虽然TLC是检测伴有寡糖排泄的经典溶酶体疾病的简单可靠的筛查方法，但HPLC因其更高的分辨率和定量可能性，更普遍地可用于识别异常寡糖或检测尿液、其他体液和细胞中已知寡糖排泄增加或含量增加的情况。
