title: A microassay for Gaucher's disease.
abstract: We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta-glucocereborsidase activity. The procedure involves the preparation of a leukocyte pellet from 50 mul of whole blood by hypotonic lysis of erythrocytes, followed by assay of beta-glucosidase activity at pH 5.5 in the presence of sodium taurocholate (0.6 g/100 ml). The methods described may also prove to be useful for the diagnosis of other diseases of enzyme deficiency which use fluorogenic substrates and leukocytes as a source of enzyme, such as Fabry's disease, Tay-Sachs disease, and generalized gangliosidosis.
mesh_terms: D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis / Q000201:enzymology; D005732:Gangliosides / Q000378:metabolism; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology; D005959:Glucosidases / Q000097:blood*; D006801:Humans; D006923:Hymecromone; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology; D008064:Lipidoses / Q000175:diagnosis / Q000201:enzymology; D008722:Methods; D008832:Microchemistry; D013656:Taurocholic Acid / Q000494:pharmacology
chemical_list: D005732:Gangliosides; D006923:Hymecromone; D013656:Taurocholic Acid; D005959:Glucosidases