A REVISED FLUOROMETRIC ASSAY FOR GAUCHER’S DISEASE USING CONDURITOL-fl-EPOXIDE WITH LIVER AS THE SOURCE OF &GLUCOSIDASE

To date, enzymatic diagnosis of Gaucher’s disease via a fluorometric assay procedure which utilizes 4-methylumbelliferyl-P-D-glucopgranoside as a substrate has not been possible when liver serves as the source of enzyme since currently employed fluorometric procedures cannot adequately differentiate between a broad-specificity fl-glucosidase and lysosomal glucocerebrosidase activities in crude extracts of liver. Incorporation of conduritol-/3-epoxide into the incubation medium for the fluorometric assay allows one to selectively measure the glucocerebrosidase activity present in a given liver extract. In five cases of Gaucher’s disease this revised fluorometric procedure proved as effective as the assay procedure which utilizes authentic, radiolabeled glucocerebroside as the substrate in demonstrating a deficiency of glucocerebrosidase activity in liver.