A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.
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一种快速检测 α-N-乙酰氨基半乳糖苷酶缺乏症和其他溶酶体贮积病中尿糖肽的方法。
DOI：
10.1016/0009-8981(90)90282-w
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发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Desnick,RJ
中科院分区：
文献类型：
--
作者：
Schindler,D;Kanzaki,T;Desnick,RJ
描述了一种通过薄层色谱和寡糖和糖肽差异可视化检测异常尿寡糖和糖肽排泄的新方法。该方法可以快速筛查和鉴定以寡糖尿和糖肽尿为特征的疾病，包括 α-N-乙酰氨基半乳糖苷酶缺乏症、弥漫性体质血管角化瘤伴糖肽尿、天冬氨葡糖胺尿、半乳糖唾液酸沉积症、岩藻糖苷沉积症、GM1 神经节苷脂沉积症和唾液酸沉积症 1 和 2。值得注意的是，糖肽排泄的表征α-N-乙酰氨基半乳糖苷酶缺乏症和弥漫性体质血管角化瘤合并糖肽尿患者的特征显示出基本相同的模式，表明这两种表型不同的病症之间存在代谢相关性。使用这种改进的薄层色谱方法应加强对患者溶酶体贮积病的常规筛查，并允许鉴定由缺陷的寡糖和/或糖蛋白代谢引起的新疾病。
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 includingα-N-acetylgalactosaminidase deficiency, angiokeratoma corporis diffusum with glycopeptiduria, aspartylglucosaminuria, galactosialidosis, fucosidosis, GM1gangliosidosis and sialidoses 1 and 2. Of note, the characterization of the glycopeptide excretion profiles in patients withα-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.