Kimura A, Hayashi S, Koseki M, Tsurumi K
Tohoku J Exp Med. 1982 Jan;136(1):61-6. doi: 10.1620/tjem.136.61.
Glycosaminoglycan isolated from urine of a patient with the Hurler-Scheie compound syndrome consisted of dermatan sulfate (60%), heparan sulfate (34%) and chondroitin sulfate (6%). About 60% of both dermatan and chondroitin sulfates had molecular weight 8,000-10,000, while 95% of the heparan sulfate had molecular weight less than 6,000. The total sulfate content of the glycosaminoglycans increased with decrease in molecular weight. N-sulfate content in the heparan sulfate, however, had no relation to molecular weight, and was 0.33 mole per mole of glucosamine on the average. About 70% of the heparan sulfate with the lowest molecular weight (1,500) were composed of three repeating disaccharide units of heparan sulfate and two acetyl, one N-sulfate and three O-sulfate groups linked to the units. The dermatan sulfate contained 1.0-1.2 moles of sulfate per mole of galactosamine. Of the excess sulfate 45-65% were bound to iduronate residues and the rest to C-6 of N-acetylgalactosamine 4-sulfate residues. Most of the dermatan sulfate (83.2-100%) had nonsulfated iduronic acid at the non-reducing end. This finding is consistent with the defect of iduronidase in this disease.
从患有Hurler-Scheie复合综合征患者尿液中分离出的糖胺聚糖由硫酸皮肤素（60%）、硫酸乙酰肝素（34%）和硫酸软骨素（6%）组成。硫酸皮肤素和硫酸软骨素约60%的分子量为8000 - 10000，而95%的硫酸乙酰肝素分子量小于6000。糖胺聚糖的总硫酸盐含量随分子量降低而增加。然而，硫酸乙酰肝素中的N - 硫酸盐含量与分子量无关，平均每摩尔葡糖胺为0.33摩尔。分子量最低（1500）的硫酸乙酰肝素约70%由硫酸乙酰肝素的三个重复二糖单位以及与这些单位相连的两个乙酰基、一个N - 硫酸盐和三个O - 硫酸盐基团组成。硫酸皮肤素每摩尔半乳糖胺含有1.0 - 1.2摩尔硫酸盐。多余的硫酸盐中45 - 65%与艾杜糖醛酸残基结合，其余与4 - 硫酸 - N - 乙酰半乳糖胺残基的C - 6位结合。大多数硫酸皮肤素（83.2 - 100%）在非还原端含有非硫酸化的艾杜糖醛酸。这一发现与该疾病中艾杜糖醛酸酶的缺陷一致。
