Mutoh T, Kiuchi K, Sobue I, Naoi M
Clin Chim Acta. 1984 Jul 31;140(3):223-30. doi: 10.1016/0009-8981(84)90203-1.
The enzymatic diagnosis of GM1 gangliosidosis, including the diagnosis of heterozygosity, requires a microassay of GM1 ganglioside beta-galactosidase activity in lymphocytes and cultured skin fibroblasts. We have adopted high-performance liquid chromatography (HPLC) to the assay of this enzyme and can measure the activity in crude samples fluorometrically. Reaction conditions were examined to determine those optimal for the assay of GM1 ganglioside beta-galactosidase activity in lymphocyte and skin fibroblast homogenates. Under these optimal conditions, reduced enzymatic activities could be detected in lymphocytes and cultured skin fibroblasts from three patients with GM1 gangliosidosis. Thus, this assay can be used for the diagnosis, rather than the usual assays employing radioactive or artificial substrates.
GM1神经节苷脂贮积症的酶学诊断，包括杂合子诊断，需要对淋巴细胞和培养的皮肤成纤维细胞中的GM1神经节苷脂β-半乳糖苷酶活性进行微量测定。我们采用高效液相色谱法（HPLC）来测定这种酶，并能通过荧光法测量粗样品中的活性。研究了反应条件，以确定最适合测定淋巴细胞和皮肤成纤维细胞匀浆中GM1神经节苷脂β-半乳糖苷酶活性的条件。在这些最佳条件下，在三名GM1神经节苷脂贮积症患者的淋巴细胞和培养的皮肤成纤维细胞中检测到酶活性降低。因此，该测定法可用于诊断，而不是通常使用放射性或人工底物的测定法。
