六种尿寡糖的结构，它们是B型黏多糖贮积症患者的特征性结构。

The structures of six urinary oligosaccharides that are characteristic for a patient with Morquio syndrome type B.

作者信息

Michalski J C, Strecker G, van Halbeek H, Dorland L, Vliegenthart J F

出版信息

Carbohydr Res. 1982 Mar 1;100:351-63. doi: 10.1016/s0008-6215(00)81048-4.

Abstract

Morquio syndrome type B is an inherited, lysosomal storage disease characterised by a marked deficiency in acid beta-D-galactosidase, while the 2-acetamido-2-deoxy-beta-D-galactose 6-sulphate sulphatase activity is normal. Urinary oligosaccharides were studied in order to evaluate the effect of the diminished beta-D-galactosidase activity on the catabolism of glycoconjugates and to compare their structure with those excreted by patients with GM1-gangliosidosis. The following oligosaccharides were isolated: beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 6)-beta-D-Manp-(1 leads to 4)-D-GlcpNac(1), beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 6)-[alpha-D-Manp-(1 leads to 3)]-beta-D-Manp-(1 leads to 4)-D-GlcpNAc (2a), beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 3)-[alpha-D-Manp-(1 leads to 6)]-beta-D-Manp-(1 leads to 4)-D-GlcpNAc (2b), beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 3)-[beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 6)]-beta-D-Manp-(1 leads to 4)-D-GlcpNAc (3), beta-D-Galp-(1 leads to 4)-beta-D-Glcp-NAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 3)-(beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-[beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 6)]-alpha-D-Manp-(1 leads to 6))-beta-D-Manp-(1 leads to 4)-D-GlcpNAc (4), beta-D-Galp-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 3)-[beta-D-GlcpNAc-(1 leads to 4)]-[beta-D-Glap-(1 leads to 4)-beta-D-GlcpNAc-(1 leads to 2)-alpha-D-Manp-(1 leads to 6)]-beta-D-Manp-(1 leads to 4)-D-Glcp-NAc (5). Significant differences between Morquio syndrome type B and GM1- gangliosidosis have been observed, with regard to the excretion rate and the specific structures of urinary oligosaccharides. Compounds 2a, 2b, and 5 are novel members of the series of oligosaccharides isolated from the urine of patients with inherited lysosomal storage diseases.

摘要

B型黏多糖贮积症是一种遗传性溶酶体贮积病，其特征是酸性β-D-半乳糖苷酶显著缺乏，而2-乙酰氨基-2-脱氧-β-D-半乳糖6-硫酸酯硫酸酯酶活性正常。对尿寡糖进行了研究，以评估β-D-半乳糖苷酶活性降低对糖缀合物分解代谢的影响，并将其结构与GM1神经节苷脂病患者排泄的尿寡糖结构进行比较。分离出了以下寡糖：β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→6)-β-D-甘露糖基-(1→4)-D-葡萄糖胺(1)、β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→6)-[α-D-甘露糖基-(1→3)]-β-D-甘露糖基-(1→4)-D-葡萄糖胺(2a)、β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→3)-[α-D-甘露糖基-(1→6)]-β-D-甘露糖基-(1→4)-D-葡萄糖胺(2b)、β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→3)-[β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→6)]-β-D-甘露糖基-(1→4)-D-葡萄糖胺(3)、β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→3)-(β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-[β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→6)]-α-D-甘露糖基-(1→6))-β-D-甘露糖基-(1→4)-D-葡萄糖胺(4)、β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→3)-[β-D-葡萄糖胺基-(1→4)]-[β-D-半乳糖基-(1→4)-β-D-葡萄糖胺基-(1→2)-α-D-甘露糖基-(1→6)]-β-D-甘露糖基-(1→4)-D-葡萄糖胺(5)。在尿寡糖的排泄率和特定结构方面，已观察到B型黏多糖贮积症与GM1神经节苷脂病之间存在显著差异。化合物2a、2b和5是从遗传性溶酶体贮积病患者尿液中分离出的寡糖系列的新成员。