A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.
To date, enzymatic diagnosis of Gaucher's disease via a fluorometric assay procedure which utilizes 4-methylumbelliferyl-beta-D-glucopyranoside 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 beta-glucosidase and lysosomal glucocerebrosidase activities in crude extracts of liver. Incorporation of conduritol-beta-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 assy procedure which utilizes authentic, radiolabeled glucocerebroside as the substrate in demonstrating a deficiency of glucocerebrosidase activity in liver.
D004796:Clinical Enzyme Tests / Q000379:methods; D005470:Fluorometry / Q000379:methods; D005776:Gaucher Disease / Q000175:diagnosis*; D005959:Glucosidases / Q000378:metabolism*; D005962:Glucosylceramidase / Q000037:antagonists & inhibitors / Q000378:metabolism*; D006801:Humans; D007294:Inositol / Q000031:analogs & derivatives / Q000494:pharmacology; D008099:Liver / Q000201:enzymology; D001617:beta-Glucosidase / Q000378:metabolism*
D007294:Inositol; D005959:Glucosidases; D001617:beta-Glucosidase; D005962:Glucosylceramidase; C011423:conduritol epoxide