青少年型异染性脑白质营养不良：生化与电生理研究
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.
作者信息
Clark J R, Miller R G, Vidgoff J M
出版信息
Neurology. 1979 Mar;29(3):346-3. doi: 10.1212/wnl.29.3.346.
A 15-year-old girl with juvenile-onset metachromatic leukodystrophy (MLD) had markedly decreased leukocyte arylsulfatase A activity and low levels of leukocyte beta galactosidase and serum acid phosphatase. There was marked slowing of nerve condition velocity, and metachromasia was seen in biopsied sural nerve. Leukocyte arylsulfatase A activity was decreased in all members of the girl's family, and sural nerve action potentials were abnormal in two asymptomatic siblings. Electrophysiologic studies combined with biochemical studies may aid in the identification of presymptomatic metachromatic leukodystrophy homozygotes or asymptomatic heterozygotes.
一名患有青少年型异染性脑白质营养不良（MLD）的15岁女孩，其白细胞芳基硫酸酯酶A活性显著降低，白细胞β-半乳糖苷酶和血清酸性磷酸酶水平较低。神经传导速度明显减慢，活检的腓肠神经可见异染现象。该女孩家族所有成员的白细胞芳基硫酸酯酶A活性均降低，两名无症状的兄弟姐妹的腓肠神经动作电位异常。电生理研究与生化研究相结合可能有助于识别症状前异染性脑白质营养不良纯合子或无症状杂合子。
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