Klein A, Lebreton A, Lemoine J, Périni J M, Roussel P, Michalski J C
1 Centre Hospitalier Régional Universitaire de Lille, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Calmette, Bd du Professeur Jules Leclercq, 59047 Lille Cedex, France.
Clin Chem. 1998 Dec;44(12):2422-8.
A new method of urinary oligosaccharides identification by matrix-assisted laser desorption time-of-flight mass spectrometry is presented. The method involves three steps: coupling of the urinary oligosaccharides with 8-aminonaphthalene-1,3,6-trisulfonic acid; fast purification over a porous graphite carbon extraction column; and mass spectrometric analysis. Identification of urinary oligosaccharides is based on the patterns and values of the pseudomolecular ions observed. We report here the patterns in urines from patients with Pompe disease, alpha and beta mannosidoses, galacto-sialidosis, and GM1 gangliosidosis. The protocols described here allowed facile and sensitive identification of the pathognomonic oligosacchariduria present in lysosomal diseases and can be extended to any pathological oligosacchariduria.
本文介绍了一种通过基质辅助激光解吸飞行时间质谱法鉴定尿中寡糖的新方法。该方法包括三个步骤：尿中寡糖与8-氨基萘-1,3,6-三磺酸偶联；在多孔石墨碳萃取柱上快速纯化；以及质谱分析。尿中寡糖的鉴定基于观察到的准分子离子的模式和值。我们在此报告了庞贝病、α和β甘露糖苷贮积症、半乳糖唾液酸贮积症和GM1神经节苷脂贮积症患者尿液中的模式。本文所述方案能够轻松、灵敏地鉴定溶酶体疾病中存在的特征性寡糖尿，并且可以扩展到任何病理性寡糖尿。
