IMMUNOLOGICAL AND CATALYTIC QUANTITATION OF SPLENIC GLUCOCEREBROSIDASE FROM THE 3 CLINICAL FORMS OF GAUCHER DISEASE

  • 1 January 1983
    • journal article
    • research article
    • Vol. 35  (4) , 621-628
Abstract
The enzymatic activity of glucocerebrosidase in splenic extracts of the adult nonneurological form of Gaucher disease (type I) was 15% .+-. 7% of normal, and the titer of enzyme cross-reacting maternal (ECRM) in these spleens was 54% .+-. 9% of normal. The titer of ECRM in splenic extracts of tissues obtained from patients with the neurological form of Gaucher disease (types II and III) was essentially the same as in type I Gaucher spleens (59% .+-. 10% of normal), but the measurable catalytic activity of glucocerebrosidase in these spleens was substantially lower than that found in type I Gaucher spleens (2.3% .+-. 0.6% of normal). The attentuated glucocerebrosidase activity in spleens from all 3 forms of Gaucher disease appears to stem from a structurally mutated enzyme that is altered in its catalytic efficiency and possibly in its antigenic expression.

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