Schindler D, Kanzaki T, Desnick R J
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.
Clin Chim Acta. 1990 Sep;190(1-2):81-91. doi: 10.1016/0009-8981(90)90282-w.
A new method is described for the detection of abnormal urinary oligosaccharide and glycopeptide excretion by thin layer chromatography and differential visualization of oligosaccharides and glycopeptides. This method permits rapid screening and identification of disorders characterized by oligosacchariduria and glycopeptiduria including alpha-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1 gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients with alpha-N-acetylgalactosaminidase deficiency and angiokeratoma corporis diffusum with glycopeptiduria revealed essentially identical patterns, indicating the metabolic relatedness of these two phenotypically distinct conditions. Use of this improved thin layer chromatographic method should enhance routine screening of patients for lysosomal storage diseases as well as permit the identification of new disorders resulting from defective oligosaccharide and/or glycoprotein metabolism.
本文描述了一种通过薄层色谱法以及对寡糖和糖肽进行差异可视化检测异常尿寡糖和糖肽排泄的新方法。该方法能够快速筛查和鉴定以尿寡糖和糖肽尿为特征的疾病，包括α-N-乙酰半乳糖胺酶缺乏症、伴有糖肽尿的弥漫性躯体血管角质瘤、天冬氨酰葡萄糖胺尿症、半乳糖唾液酸贮积症、岩藻糖苷贮积症、GM1神经节苷脂贮积症以及唾液酸贮积症1型和2型。值得注意的是，α-N-乙酰半乳糖胺酶缺乏症患者和伴有糖肽尿的弥漫性躯体血管角质瘤患者的糖肽排泄谱特征显示出基本相同的模式，表明这两种表型不同的病症在代谢上具有相关性。使用这种改进的薄层色谱法应能加强对溶酶体贮积症患者的常规筛查，并有助于鉴定由寡糖和/或糖蛋白代谢缺陷导致的新疾病。
