Giles L, Cooper A, Fowler B, Sardharwalla I B, Donnai P
Prenat Diagn. 1987 May;7(4):245-52. doi: 10.1002/pd.1970070404.
Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH optimum, Km values and linearity with incubation time were found. These differences can be explained by the presence of aryl sulphatase C (ASC), a major component in chorionic villi and placenta. This isoenzyme was shown to have activity towards p-nitrocatechol sulphate (NCS) thereby interfering in the colorimetric assay most often used to detect MLD (Baum et al., 1959)
异染性脑白质营养不良（MLD）的产前诊断基于证明胎儿中芳基硫酸酯酶A（ASA）缺乏。为了评估绒毛取样在这种疾病产前诊断中的作用，比较了绒毛和培养的皮肤成纤维细胞中ASA的特性。发现关于最适pH、米氏常数（Km值）以及与孵育时间的线性关系存在显著差异。这些差异可以用芳基硫酸酯酶C（ASC）的存在来解释，ASC是绒毛和胎盘中的主要成分。已证明这种同工酶对硫酸对硝基儿茶酚（NCS）有活性，从而干扰了最常用于检测MLD的比色测定法（鲍姆等人，1959年）
