以4-甲基伞形酮基-α-D-吡喃葡萄糖苷为底物，在培养的皮肤成纤维细胞和原代羊水细胞中诊断庞贝病。
Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate.
作者信息
Butterworth J, Droadhead D M
出版信息
Clin Chim Acta. 1977 Jul 15;78(2):335-42. doi: 10.1016/0009-8981(77)90325-4.
The possible interference of neutral alpha-D-glucosidase in the diagnosis of Pompe's disease using 4-methylumbelliferyl-alpha-D-glucopyranoside as substrate for the assay of acid alpha-D-glucosidase was investigated. The pH profile of alpha-D-glucosidase in control skin fibroblasts and amniotic fluid cells showed two peaks of activity. The shape of the pH profile depended upon whether or not the extract was added to the buffer before the substrate. If extract was added to the buffer before the substrate, a greater separation was obtained between the two peaks of activity. The neutral alpha-D-glucosidase activity could be totally removed by preliminary precipitation at pH 5.0. Following acid region whilst Pompe's cells had no activity enabling a clear distinction to be made between carriers and the disease state.
研究了使用4-甲基伞形酮基-α-D-吡喃葡萄糖苷作为酸性α-D-葡萄糖苷酶测定的底物时，中性α-D-葡萄糖苷酶对庞贝病诊断的可能干扰。对照皮肤成纤维细胞和羊水细胞中α-D-葡萄糖苷酶的pH谱显示有两个活性峰。pH谱的形状取决于提取物是在底物之前还是之后添加到缓冲液中。如果在底物之前将提取物添加到缓冲液中，则两个活性峰之间的分离更大。中性α-D-葡萄糖苷酶活性可通过在pH 5.0下初步沉淀完全去除。在酸性区域之后，而庞贝病细胞没有活性，从而能够在携带者和疾病状态之间进行明确区分。
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