血浆和白细胞α-L-岩藻糖苷酶的生化及遗传学研究
Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.
作者信息
Ng W G, Donnell G N, Koch R, Bergren W R
出版信息
Am J Hum Genet. 1976 Jan;28(1):42-50.
Abstract
Deficiency of alpha-L-fucosidase in plasma and leukocytes has been demonstrated in three patients affected with fucosidosis. The measurement of plasma fucosidase activity alone is of little diagnostic value. Several normal individuals were found to have extremely low plasma alpha-L-fucosidase activity, but normal activity in leukocyte preparations. The low plasma enzyme activity exhibited by clinically normal individuals appears to be an inherited characteristic. The plasma enzyme was found to be different from that of leukocytes in terms of electrophoretic mobility.
摘要
在三名患有岩藻糖苷贮积症的患者中，已证实其血浆和白细胞中α-L-岩藻糖苷酶缺乏。仅测定血浆岩藻糖苷酶活性几乎没有诊断价值。发现几名正常个体的血浆α-L-岩藻糖苷酶活性极低，但白细胞制剂中的活性正常。临床正常个体表现出的低血浆酶活性似乎是一种遗传特征。发现血浆酶在电泳迁移率方面与白细胞的不同。
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