title: Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
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 material (ECRM) in these spleens was 54% +/- 9% of normal. The titer of ECRM in splenic extracts of tissues obtained from patients with the neurological forms 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). Thus, the attentuated glucocerebrosidase activity in spleens from all three 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002384:Catalysis; D002648:Child; D003429:Cross Reactions; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics; D005959:Glucosidases / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007106:Immune Sera; D007118:Immunoassay; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011817:Rabbits / Q000276:immunology; D013154:Spleen / Q000201:enzymology*
chemical_list: D007106:Immune Sera; D005959:Glucosidases; D005962:Glucosylceramidase