Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver.
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.
D002554:Cerebrosides / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000201:enzymology*; D005959:Glucosidases / Q000032:analysis / Q000378:metabolism*; D006801:Humans; D006923:Hymecromone; D007223:Infant; D008099:Liver / Q000201:enzymology*; D008297:Male; D009596:Nitrophenols; D013154:Spleen / Q000201:enzymology; D001617:beta-Glucosidase
D002554:Cerebrosides; D009596:Nitrophenols; D006923:Hymecromone; C021791:4-methylumbelliferyl-beta-glucosidase; D005959:Glucosidases; D001617:beta-Glucosidase