Cerebroside-β-glucosidase activity in Gaucher brain

Cerebroside-β glucosidase (acid β -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-β3H) nervonoylglucosylsphingosine and the artificial fluorogenic 4-methyl-umbelliferyl-β -glucoside. The average residual activities of β -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.