Cerebroside-beta-glucosidase activity in Gaucher brain.
Cerebroside-beta-glucosidase (acid beta-glucosidase) activity was determined in the forebrain from three patients with the infantile type of Gaucher disease, six patients with the Norrbottnian type and one patient with a mixed infantile/Norrbottnian type. The forebrain from ten subjects, aged 3 months to 20 years, served as controls. The activity was assayed with the natural substrate, (glucose-6-3H) nervonoylglucosylsphingosine and the artificial fluorogenic 4-methyl-umbelliferyl-beta-glucoside. The average residual activities of beta-glucosidase were 12% in the Norrbottnian type and 5% in the infantile type when determined with natural or artificial substrate. Optimum discrimination of the two types of Gaucher disease was obtained with the natural substrate.
D001921:Brain / Q000201:enzymology; D002554:Cerebrosides / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005776:Gaucher Disease / Q000145:classification / Q000201:enzymology*; D005959:Glucosidases / Q000378:metabolism*; D005962:Glucosylceramidase / Q000378:metabolism*; D006801:Humans
D002554:Cerebrosides; D005959:Glucosidases; D005962:Glucosylceramidase