Tsay G C, Dawson G, Sung S S
J Biol Chem. 1976 Oct 10;251(19):5852-9.
Two water-soluble complex carbohydrate storage products were isolated from tissues and urine of patients with an inherited deficiency of lysosomal alpha-L-fucosidase (fucosidosis). The major component was an oligosaccharide of approximate molecular weight 1700, indicating that it was a dekasaccharide. From a combination of sequential digestion with purified exo-glycosidases, periodate oxidation and permethylation in conjunction with gas-liquid chromatography mass spectrometric analysis, the structure was found to be: Fuc(alpha 1 leads to 2)Gal-(beta 1 leads to 4) GlcNAc (beta1 leads to 2)Man [Fuc(alpha1 leads to 2) Gal (beta1 leads to 4) GlcNAc(beta1 leads to 2) Man] (alpha 1 leads to 3/6) Man (beta1 leads to 4) GlcNAc, although there was some evidence for heterogeneity at the mannose branchpoint. This material is structurally related to the stored oligosaccharides in patients with inherited deficiencies of beta-galactosidase (G M1-gangliosidosis) and N-acetyl-beta-hexosaminidase (G M2-gangliosidosis). A dissaccharide with the probable structure Fuc(alpha1 leads to 6)GlcNAc was found in lesser amounts in tissues; both are believed to be derived from the impaired catabolism of large numbers of different glycoproteins.
从患有溶酶体α-L-岩藻糖苷酶遗传性缺乏症（岩藻糖苷贮积症）患者的组织和尿液中分离出两种水溶性复合碳水化合物储存产物。主要成分是一种分子量约为1700的寡糖，表明它是一种十糖。通过结合使用纯化的外切糖苷酶进行顺序消化、高碘酸盐氧化和甲基化，再结合气-液色谱-质谱分析，发现其结构为：Fuc(α1→2)Gal-(β1→4)GlcNAc(β1→2)Man Fuc(α1→2)Gal(β1→4)GlcNAc(β1→2)ManMan(β1→4)GlcNAc，不过在甘露糖分支点存在一些异质性的证据。这种物质在结构上与患有β-半乳糖苷酶遗传性缺乏症（GM1神经节苷脂贮积症）和N-乙酰-β-己糖胺酶遗传性缺乏症（GM2神经节苷脂贮积症）患者体内储存的寡糖相关。在组织中还发现了少量可能结构为Fuc(α1→6)GlcNAc的二糖；两者都被认为源自大量不同糖蛋白分解代谢受损。
