Constantopoulos G, Shull R M, Hastings N, Neufeld E F
J Neurochem. 1985 Oct;45(4):1213-7. doi: 10.1111/j.1471-4159.1985.tb05544.x.
This report presents the neurochemical findings on the first dog to die with deficiency of alpha-L-iduronidase (mucopolysaccharide alpha-L-iduronohydrolase; EC 3.2.1.76). The principal findings were (a) markedly increased glycosaminoglycan content in all neural tissues examined (from threefold in sciatic nerve to 15-fold in brainstem), (b) a modest increase in levels of gangliosides GM2, GM3, and GD3, particularly in gray matter, (c) excessive accumulation of glycosaminoglycans in the CSF, (d) the increased glycosaminoglycans were dermatan sulfate and heparan sulfate, and (e) the molecular weights of the liver glycosaminoglycans were shifted toward smaller sizes, indicating partial degradation. The canine disorder thus resembles mucopolysaccharidosis I in all aspects.
本报告展示了首例因α-L-艾杜糖醛酸酶（黏多糖α-L-艾杜糖醛水解酶；EC 3.2.1.76）缺乏而死亡的犬的神经化学研究结果。主要发现包括：（a）在所有检测的神经组织中，糖胺聚糖含量显著增加（从坐骨神经中的三倍到脑干中的15倍）；（b）神经节苷脂GM2、GM3和GD3水平适度升高，尤其是在灰质中；（c）脑脊液中糖胺聚糖过度积累；（d）增加的糖胺聚糖是硫酸皮肤素和硫酸乙酰肝素；（e）肝脏糖胺聚糖的分子量向较小尺寸偏移，表明存在部分降解。因此，这种犬类疾病在各方面都类似于黏多糖贮积症I。
