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Cerebroside‐β‐glucosidase activity in Gaucher brain
Author(s) -
Svennerholm Lars,
Månsson JanEric,
Rosengren Birgitta
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00582.x
Subject(s) - cerebroside , forebrain , gaucher's disease , substrate (aquarium) , endocrinology , medicine , biochemistry , chemistry , biology , disease , central nervous system , ecology
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‐β 3 H) 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.