Constantopoulos G, Dekaban A S
Clin Chim Acta. 1975 Mar 24;59(3):321-36. doi: 10.1016/0009-8981(75)90008-x.
Glycosaminoglycans were isolated from the urines of 46 patients with mucopolysaccharidosis; 11 with Type I (Hurler), 8 with Type II (Hunter), 16 with Type III (Sanfilippo A and B), 9 with Type V (Scheie), one with Type VI (Marateaux-Lamy), and one unclassified. All 46 patients excreted in their urine excessive amounts of dermatan sulfate, heparan sulfate or both. In addition, patients of certain types excreted excessive amounts of chondroitin sulfates A and/or C. There is a trend in each type of the disease towards the same carbazole/orcinol ratio, glucosamine/galactosamine ratio and glycosaminoglycan composition. Molecular weight distribution of the urinary glycosaminoglycans by gel filtration from Sephadex G-200 is characteristic for each different type of mucopolysaccharidosis and is distinguished from normal controls and patients without mucopolysaccharidosis. Preparation of elution diagrams from Sephadex G-200 allows an estimation of the composition of the glycosamino-glycans. Practically all heparan sulfate and a sizable part of dermatan sulfate from the urinary glycosaminoglycans of all these patients have been highly degraded. In all the patients in which the specific enzyme defect was demonstrated, the assignment of the type of mucopolysaccharidosis, on the basis of the elution diagrams, was correct. Patients with mucopolysaccharidosis Type V displayed two conspicuously different types of elution patterns, suggesting heterogeneity. Indeed, only a portion of these patients showed alpha-L- iduronidase deficiency. Carriers had normal urinary glycosaminoglycan output and composition and exhibited normal elution diagrams.
从46例黏多糖贮积症患者的尿液中分离出糖胺聚糖；其中11例为I型（Hurler综合征），8例为II型（Hunter综合征），16例为III型（Sanfilippo A和B综合征），9例为V型（Scheie综合征），1例为VI型（Maroteaux-Lamy综合征），1例未分类。所有46例患者尿液中均排泄过量的硫酸皮肤素、硫酸乙酰肝素或两者皆有。此外，某些类型的患者排泄过量的硫酸软骨素A和/或C。每种疾病类型都有朝着相同的咔唑/苔黑酚比率、葡糖胺/半乳糖胺比率和糖胺聚糖组成发展的趋势。通过Sephadex G - 200凝胶过滤法测定尿糖胺聚糖的分子量分布，对于每种不同类型的黏多糖贮积症具有特征性，且与正常对照和无黏多糖贮积症的患者不同。制备Sephadex G - 200洗脱图可估计糖胺聚糖的组成。实际上，所有这些患者尿糖胺聚糖中的几乎所有硫酸乙酰肝素和相当一部分硫酸皮肤素都已高度降解。在所有已证实存在特定酶缺陷的患者中，根据洗脱图对黏多糖贮积症类型的判定是正确的。V型黏多糖贮积症患者表现出两种明显不同的洗脱模式，提示存在异质性。实际上，这些患者中只有一部分显示α - L - 艾杜糖醛酸酶缺乏。携带者的尿糖胺聚糖排出量和组成正常，洗脱图也正常。
