Czartoryska B, Gorska D, Abramowicz T
Acta Anthropogenet. 1983;7(4):301-7.
Some kinetic Properties of beta-galactosidase in crude extracts of cultured fibroblasts obtained from patients with Morquio B disease, GM1-gangliosidosis and from the controls were compared. The main defect in Morquio B seems to be the lowering of enzyme affinity to the substrates, while in the case of GM1-gangliosidosis of infantile type 1 a dramatic decrease of Vmax value concomitant with normal KM value was observed. Based on these observations possible interpretations of the clinical picture are discussed.
对从莫尔基奥B病患者、GM1神经节苷脂贮积症患者以及对照组获取的培养成纤维细胞粗提物中的β-半乳糖苷酶的一些动力学特性进行了比较。莫尔基奥B病的主要缺陷似乎是酶对底物的亲和力降低，而在婴儿型1型GM1神经节苷脂贮积症中，观察到Vmax值显著降低，而KM值正常。基于这些观察结果，讨论了对临床表现的可能解释。
