异染性脑白质营养不良(MLD)的主要生化表现是脑苷脂硫酸酯酶(ARSA)缺乏。根据对此酶的检验,MLD的典型形式可分为三种:即婴儿后期型、青少年型及成人型。良性假ARSA的缺乏,在此酶的缺乏程度上与MLD是相似的。但是借助于正在生长的成纤维细胞采用硫酸脑苷脂负荷试验表明,可以区别这些类型。婴儿后期型MLD细胞显示没有硫酸脑苷脂的水解,青 The main biochemical manifestation of metachromatic leukodystrophy (MLD) is a lack of cerebroside sulfatase (ARSA). According to this enzyme test, the typical form of MLD can be divided into three types: namely, infant late-onset, adolescent and adult. The absence of benign false ARSA is similar to that of MLD in this enzyme deficiency. However, the use of sulphate-loaded cerebrosides in growing fibroblasts suggests that these types can be distinguished. Late-stage infantile MLD cells showed no hydrolysis of sulfated cerebrosides, blue