Cooper A, Hatton C, Thornley M, Sardharwalla I B
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendelbury, UK.
J Inherit Metab Dis. 1988;11(1):17-29. doi: 10.1007/BF01800054.
Marked deficiencies of beta-mannosidase activity were demonstrated in plasma, leukocytes, fibroblasts and urine of a patient with beta-mannosidosis, similar deficiencies were observed in the proband's sibling. All other lysosomal enzymes measured, including sulphamidase, exhibited normal activity. Both parents showed reduced plasma and leukocyte beta-mannosidase activity. Urinary glycosaminoglycan excretion was normal but TLC of urinary oligosaccharides revealed an abnormal band with the mobility of a disaccharide. This finding was confirmed by Bio-Gel P2 column chromatography. Further purification of this compound revealed two disaccharides, both of which yielded mannose and glucosamine following acid hydrolysis and mannose and N-acetylglucosamine following enzymic digestion. These two compounds are thought to be structural isomers of the disaccharide Man beta-GlcNAc.
在一名患有β-甘露糖苷贮积症患者的血浆、白细胞、成纤维细胞和尿液中，均显示出显著的β-甘露糖苷酶活性缺陷，在该先证者的同胞中也观察到了类似的缺陷。所检测的所有其他溶酶体酶，包括硫酸酯酶，活性均正常。父母双方的血浆和白细胞β-甘露糖苷酶活性均降低。尿糖胺聚糖排泄正常，但尿寡糖的薄层层析显示出一条具有二糖迁移率的异常条带。这一发现通过Bio-Gel P2柱色谱得到了证实。对该化合物的进一步纯化显示出两种二糖，经酸水解后二者均产生甘露糖和葡糖胺，经酶消化后则产生甘露糖和N-乙酰葡糖胺。这两种化合物被认为是二糖Manβ-GlcNAc的结构异构体。
