A new variant of type-AB GM2-gangliosidosis.
A new variant of type-AB GM2-gangliosidosis.
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AB 型 GM2 神经节苷脂沉积症的新变体。
DOI：
10.1016/0006-291x(81)91285-7
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发表时间：
1981
影响因子：
3.1
通讯作者：
Li,YT
中科院分区：
文献类型：
--
作者：
Li,SC;Hirabayashi,Y;Li,YT
诊断为AB型GM 2-神经节苷脂沉积症的患者发现β-氨基己糖苷酶A存在缺陷，但对GM 2神经节苷脂酶水解具有特异性的激活剂（GM 2-激活剂）不存在缺陷。从患者脑中分离的β-氨基己糖苷酶A和B对合成底物显示正常活性，但在存在从正常人肝或脑中分离的GM 2激活剂的情况下不能水解GM 2神经节苷脂。该患者大脑中的GM 2激活剂水平比两个对照大脑中的水平高出三倍。从该患者脑中分离的激活剂能够刺激人肝或脑β-氨基己糖苷酶A催化的GM 2神经节苷脂水解，但不能刺激B。
A patient diagnosed as having Type-AB GM2-gangliosidosis was found to have a defect in β-hexosaminidase A, but not in the activator (GM2-activator) specific for the enzymic hydrolysis of GM2 ganglioside. β-Hexosaminidase A and B isolated from the brain of the patient showed normal activity toward synthetic substrates, but could not hydrolyze GM2 ganglioside in the presence of GM2-activator isolated from normal human liver or brain. The level of GM2-activator in the brain of this patient was three times higher than that found in the two control brains. The activator isolated from the brain of this patient was able to stimulate the hydrolysis of GM2 ganglioside catalyzed by human hepatic or brain β-hexosaminidase A but not by B.