疑似异染性脑白质营养不良的单卵双胞胎。患者及其家族血清中芳基硫酸酯酶A的活性。
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family.
作者信息
Hashimoto T, Minato H, Kuroda Y, Toshima K, Ohara K, Miyao M
出版信息
Arch Neurol. 1978 Oct;35(10):689-91. doi: 10.1001/archneur.1978.00500340065013.
Arylsulfatase A (ASA) activity in urine and serum was assayed on two 21-month-old monozygotic twins with presumed metachromatic leukodystrophy (MLD), their parents, and kin. The patients showed a marked reduction in ASA activity in both urine and serum. The twins' parents and 11 kin, a total of 13 persons, were examined for ASA activity in serum, but it was not possible to delineate heterozygous carriers of MLD by the present study. The assay of ASA activity in serum promises to be useful for diagnosis of MLD.
对两名疑似患有异染性脑白质营养不良（MLD）的21个月大的同卵双胞胎及其父母和亲属的尿液和血清中的芳基硫酸酯酶A（ASA）活性进行了检测。患者尿液和血清中的ASA活性均显著降低。对这对双胞胎的父母和11名亲属，共13人进行了血清ASA活性检测，但本研究无法确定MLD的杂合子携带者。血清中ASA活性检测有望用于MLD的诊断。
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