Dubois G, Turpin J C, Georges M C, Baumann N
Biomedicine. 1980 Feb;33(1):2-4.
We report a statistical study on the level of aryl-sulfatases A and B in leukocytes of 106 controls, 19 cases of metachromatic leukodystrophy (MLD) infantile and juvenile forms and 25 obligate heterozygotes for MLD. Arylsulfatase A has been found to be similarly deficient in patients of the two forms. Half of the mean of the controls have been found in both types for heterozygotes. Arylsulfatase B (ASB) is slightly higher than normal in late infantile MLD although it is not statistically significant. In the 5 cases of the juvenile forms that were examined, ASB was found to be significantly reduced. This enzyme may play a role in relation to the onset of the disease.
我们报告了一项关于106名对照者、19例婴儿型和青少年型异染性脑白质营养不良(MLD)患者以及25例MLD obligate杂合子白细胞中芳基硫酸酯酶A和B水平的统计研究。已发现两种类型的患者中芳基硫酸酯酶A同样缺乏。杂合子的两种类型中均发现其水平为对照者平均值的一半。芳基硫酸酯酶B(ASB)在晚发型婴儿型MLD中略高于正常水平,尽管无统计学意义。在检查的5例青少年型病例中,发现ASB显著降低。这种酶可能与疾病的发病有关。