A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.

Abstract

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.

• Authors: L B Daniels, R H Glew, N S Radin, R R Vunnam
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 106 Issue 2 Pg. 155-63 (Sep 25 1980) ISSN: 0009-8981 [Print] Netherlands
• PMID: 6773704 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Inositol
• Glucosidases
• beta-Glucosidase
• Glucosylceramidase
• conduritol epoxide

Topics

• Clinical Enzyme Tests (methods)
• Fluorometry (methods)
• Gaucher Disease (diagnosis)
• Glucosidases (metabolism)
• Glucosylceramidase (antagonists & inhibitors, metabolism)
• Humans
• Inositol (analogs & derivatives, pharmacology)
• Liver (enzymology)
• beta-Glucosidase (metabolism)