beta-Glucosidase activity was measured in control subjects and in five patients with neuropathic
Gaucher's disease. In three 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 two patients with
Gaucher's disease, exhibiting normal 4MU- and PNP-
beta-glucosidase activity, revealed the presence of two 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 three of the five patients studied.