NEUROPATHIC GAUCHERS-DISEASE WITH NORMAL 4-METHYLUMBELLIFERYL-BETA-GLUCOSIDASE ACTIVITY IN LIVER
NEUROPATHIC GAUCHERS-DISEASE WITH NORMAL 4-METHYLUMBELLIFERYL-BETA-GLUCOSIDASE ACTIVITY IN LIVER
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DOI：
10.1203/00006450-197705000-00004
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发表时间：
1977-01-01
影响因子：
3.6
通讯作者：
KITAGAWA, T
中科院分区：
文献类型：
--
作者：
OWADA, M;SAKIYAMA, T;KITAGAWA, T
.beta.-Glucosidase activity was measured in control subjects and in 5 patients with neuropathic Gaucher''s disease. In 3 patients with Gaucher''s disease, methylumbelliferyl- and p-nitrophenyl-.beta.-d-glucopyranoside (4MU- and PNP-.beta.-glucosidase) activity was almost normal in the liver but markedly reduced in the spleen and fibroblasts. In the other patients with Gaucher''s disease 4MU- and PNP-.beta.-glucosidase activity was also very much reduced in the liver, spleen and fibroblasts. DEAE-cellulose column chromatography with a chloride gradient elution of the liver extract from a control subject and from 2 patients with Gaucher''s disease, exhibiting normal 4MU- and PNP-.beta.-glucosidase activity, revealed the presence of 2 peaks of 4MU- and PNP-.beta.-glucosidase activity (fractions 1 and 2). pH activity curves of .beta.-glucosidases and Km measured with 4MU-.beta.-glucoside in fractions 1 and 2 from patients with Gaucher''s liver were identical to those from the control liver. However, fractions 1 and 2 from infantile Gaucher''s liver exhibited no activity measured with glucocerebroside whereas those from juvenile Gaucher''s liver showed a considerable activity. Glucocerebroside was greatly accumulated in the liver, even though an almost normal activity of 4MU-.beta.-glucosidase was detected in 3 of the 5 patients studied.
