Jordan T W, Casey B, Weston H J
N Z Med J. 1977 May 11;85(587):369-72.
Two unrelated families with metachromatic leukodystrophy have been examined for the leukocyte enzyme arylsufatase A. The enzyme activities clearly reflect an autosomal recessive mode of inherence. All four parents showed heterozygote enzyme levels 40-60 percent of the control range while the two affected children had less than 20 percent normal activity. The two sibs of one affected child were shown to be heterozygote carriers. A simple screening method for sulfatase activity in tears has been developed which distinguished between metachromatic leukodystrophy patients and a control population which included other neurological disorders. Enzyme screening on tears may also be used to detect other lysosomal storage diseases including Tay-Sachs and Fabry disease.
对两个患有异染性脑白质营养不良的非亲缘家庭进行了白细胞芳基硫酸酯酶A检测。酶活性清楚地反映了常染色体隐性遗传模式。所有四位父母的酶水平均显示为杂合子，处于对照范围的40%-60%，而两名患病儿童的酶活性则低于正常活性的20%。一名患病儿童的两名同胞被证明是杂合子携带者。已开发出一种简单的检测泪液中硫酸酯酶活性的筛查方法，该方法可区分异染性脑白质营养不良患者与包括其他神经系统疾病在内的对照人群。泪液酶筛查也可用于检测其他溶酶体贮积病，包括泰-萨克斯病和法布里病。
