Hultberg B, Ockerman P A, Dahlqvist A
J Clin Invest. 1970 Feb;49(2):216-24. doi: 10.1172/JCI106230.
The sugars present in hydrolyzed extracts of human liver and brain were analyzed by gasliquid chromatography after conversion to their alditol acetates. The samples analyzed were obtained from control subjects, patients with gargoylism, and patients with a few other kinds of storage disorders. Accumulation of galactose was demonstrated in the liver and the brain of two patients with gargoylism, and in the liver samples, high levels of mannose were found too. We also studied the hydrolysis of a number of galactosides by homogenates from different tissues in the control subjects and in the patients. Separation methods and kinetic studies demonstrated the presence in normal human tissues of two different beta-galactosidases, which we call enzyme A and enzyme B, respectively. Enzyme A hydrolyzed all the beta-galactosides tested. Enzyme B hydrolyzed the synthetic substrates tested (4-methylumbelliferyl-, p-nitrophenyl-, o-nitrophenyl-, and phenyl-beta-galactoside) but not the natural substrates tested (ceramide-beta-galactoside, ceramide lactoside, transferrin glycopeptide, and keratan sulfate). Enzyme B also exerted beta-glucosidase activity. In various tissues from patients with gargoylism, deficiency of beta-galactosidase A could be demonstrated. It is suggested that the high level of galactose found in the hydrolyzed extracts of tissues from gargoylism patients is due to storage of galactose-rich glycosaminoglycans and glycopeptides, and that this storage is a result of the deficiency of beta-galactosidase A. The high level of mannose in the liver from gargoylism patients seems to indicate storage of glycopeptide, adding a new group of substances to those known to be stored in gargoylism.
将人肝脏和大脑水解提取物中的糖类转化为糖醇乙酸酯后，通过气液色谱法进行分析。所分析的样本取自对照受试者、黏多糖贮积症患者以及其他几种贮积症患者。在两名黏多糖贮积症患者的肝脏和大脑中均证实有半乳糖蓄积，并且在肝脏样本中还发现了高水平的甘露糖。我们还研究了对照受试者和患者不同组织匀浆对多种半乳糖苷的水解作用。分离方法和动力学研究表明，正常人组织中存在两种不同的β-半乳糖苷酶，我们分别将其称为酶A和酶B。酶A能水解所有测试的β-半乳糖苷。酶B能水解所测试的合成底物（4-甲基伞形酮基-β-半乳糖苷、对硝基苯基-β-半乳糖苷、邻硝基苯基-β-半乳糖苷和苯基-β-半乳糖苷），但不能水解所测试的天然底物（神经酰胺-β-半乳糖苷、神经酰胺乳糖苷、转铁蛋白糖肽和硫酸角质素）。酶B还具有β-葡萄糖苷酶活性。在黏多糖贮积症患者的各种组织中，可证实β-半乳糖苷酶A缺乏。提示黏多糖贮积症患者组织水解提取物中发现的高水平半乳糖是由于富含半乳糖的糖胺聚糖和糖肽蓄积所致，而这种蓄积是β-半乳糖苷酶A缺乏的结果。黏多糖贮积症患者肝脏中高水平的甘露糖似乎表明有糖肽蓄积，这为已知在黏多糖贮积症中蓄积的物质增添了一类新物质。
