使用4-甲基伞形酮基-β-D-吡喃葡萄糖苷对肝脏中的戈谢病进行诊断。

The diagnosis of Gaucher's disease in liver using 4-methylumbelliferyl-beta-D-glucopyranoside.

Broadhead D M, Butterworth J

Clin Chim Acta. 1977 Feb 15;75(1):155-61. doi: 10.1016/0009-8981(77)90512-5.

Abstract

Cases of Gaucher's disease could not be distinguished from controls by the assay of beta-glucosidase activity in water homogenates of liver using 4-methylumbelliferyl-beta-D glucopyranoside. 2. Two peaks of beta-glucosidase activity were separated by Sephadex G-150 gel filtration in control and Gaucher livers. In the presence of the elution buffer pH profiles of peak I showed a deficiency at pH 3.5-4.5 in Gaucher's disease. Gaucher and control peak II had similar pH profiles with little or no activity at pH 3.0-4.0. 3. A clear distinction between homogenates of Gaucher and control liver was obtained by assay at pH 4.0 in the presence of elution buffer, or of sodium chloride, a component of the elution buffer.

摘要

使用4-甲基伞形酮基-β-D-吡喃葡萄糖苷对肝脏水匀浆中的β-葡萄糖苷酶活性进行测定时，无法将戈谢病患者与对照组区分开来。2. 通过Sephadex G-150凝胶过滤法，在对照肝脏和戈谢病肝脏中分离出了两个β-葡萄糖苷酶活性峰。在洗脱缓冲液存在的情况下，I峰的pH谱显示在戈谢病中pH 3.5 - 4.5时存在活性缺陷。戈谢病和对照的II峰具有相似的pH谱，在pH 3.0 - 4.0时活性很小或没有活性。3. 在洗脱缓冲液或洗脱缓冲液成分氯化钠存在的情况下，于pH 4.0进行测定，可明确区分戈谢病肝脏和对照肝脏的匀浆。