球形细胞脑白质营养不良：乳糖基神经酰胺β-半乳糖苷酶缺乏症。
Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.
作者信息
Wenger D A, Sattler M, Hiatt W
出版信息
Proc Natl Acad Sci U S A. 1974 Mar;71(3):854-7. doi: 10.1073/pnas.71.3.854.
Abstract
Activity of lactosyl ceramide beta-galactosidase (beta-D-galactoside galactohydrolase, EC 3.2.1.23) was found to be extremely low in enzyme preparations from liver, brain, and cultured skin fibroblasts from patients with Krabbe's disease. Leukocytes from one set of parents had enzyme levels approximately half those measured in control leukocytes. The low activity observed for this galactolipid hydrolase is the fourth enzymatic deficiency noted for this genetic disease. Beta-galactosidase activity toward galactocerebroside, psychosine, and monogalactosyl diglyceride is also low in patients with Krabbe's disease. Other lysosomal enzymes measured were found to be in the normal range. This enzymatic defect may provide a better explanation for the pathological and chemical findings previously reported for this syndrome.
摘要
在来自患有克拉贝病患者的肝脏、大脑及培养的皮肤成纤维细胞的酶制剂中，发现乳糖基神经酰胺β-半乳糖苷酶（β-D-半乳糖苷半乳糖水解酶，EC 3.2.1.23）的活性极低。一组父母的白细胞中的酶水平约为对照白细胞中所测水平的一半。这种半乳糖脂水解酶活性低是该遗传病所发现的第四种酶缺乏症。克拉贝病患者对半乳糖脑苷脂、鞘氨醇半乳糖苷和单半乳糖基甘油二酯的β-半乳糖苷酶活性也较低。所检测的其他溶酶体酶均在正常范围内。这种酶缺陷可能为先前报道的该综合征的病理和化学发现提供更好的解释。
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