Kimura A, Hayashi S, Koseki M, Kochi H, Tsurumi K
Tohoku J Exp Med. 1984 Nov;144(3):227-36. doi: 10.1620/tjem.144.227.
Urinary heparan sulfates (HS) from two siblings with mucopolysaccharidosis (MPS) III-B were fractionated by chromatography with Dowex 1 and Sephadex G-50. Their Mr ranged from 1600 to 8000, and 95% of them were included in the region less than 5000. Fractions with lower Mr contained larger amounts of O-and N-sulfates. The chemical analysis and deaminative cleavage of HS suggested that an intact HS molecule was composed of some blocks rich in GlcNAc and GlcUA and other blocks rich in GlcNS, IdUA and O-sulfate. GlcNAc-UA-GlcNS-UA-GlcNAc-UA-GlcNAc was found to be a major oligosaccharide of HS with Mr less than 1800. Trisaccharides, GlcNAc-GlcUA-aMan and GlcNAc-IdUA-aMan, were released from the nonreducing end of HS-oligosaccharides by deaminative cleavage. They carried 0-3 moles of ester sulfate. GlcNAc-IdUA-aMan was more sulfated than the other. The release of significant amounts of nonsulfated trisaccharide conform to the enzyme defect in this disease. Urinary HS obtained from another patient with MPS III were examined by the same way. Although the patient was not examined enzymatically, the structure of urinary GAG suggested a defect of alpha-N-acetylglucosaminidase in the patient.
对两名患有黏多糖贮积症（MPS）III - B的兄弟姐妹的尿中硫酸乙酰肝素（HS），采用Dowex 1和Sephadex G - 50进行色谱分离。其相对分子质量（Mr）范围为1600至8000，其中95%包含在小于5000的区域。较低Mr的组分含有较多的O - 和N - 硫酸盐。HS的化学分析和脱氨基裂解表明，完整的HS分子由一些富含GlcNAc和GlcUA的片段以及其他富含GlcNS、IdUA和O - 硫酸盐的片段组成。发现GlcNAc - UA - GlcNS - UA - GlcNAc - UA - GlcNAc是Mr小于1800的HS的主要寡糖。通过脱氨基裂解从HS - 寡糖的非还原端释放出三糖GlcNAc - GlcUA - αMan和GlcNAc - IdUA - αMan。它们带有0 - 3摩尔的硫酸酯。GlcNAc - IdUA - αMan的硫酸化程度高于另一种。大量非硫酸化三糖的释放与该疾病中的酶缺陷一致。对另一名MPS III患者的尿HS采用相同方法进行检测。尽管未对该患者进行酶学检测，但尿糖胺聚糖（GAG）的结构提示该患者存在α - N - 乙酰葡糖胺酶缺陷。
