Trihexosylceramide alpha-galactosidase of human leucocytes.
Trihexosylceramide, isolated from human kidney and labelled in the terminal galactose position by oxidation with galactose oxidase and reduction with sodium boro[3H]hydride, was used to study some of the properties of human leucocyte alpha-galactosidase. The enzyme was inactive in the absence of detergent. Of all the detergents tested a crude sodium taurocholate preparation displayed the greatest activity. The optimal detergent concentration varied from 2 to 4 mg/ml depending on the protein concentration and indicating that the enzyme activity was dependent on the protein/detergent ratio. Because of its influence in regulating enzyme activity, it is essential that care must be taken to ensure that the protein/detergent ratio of all incubation mixtures is kept relatively constant whenever the diagnosis of Fabry's disease is attempted.
D004796:Clinical Enzyme Tests; D003902:Detergents; D000795:Fabry Disease / Q000175:diagnosis; D005260:Female; D005696:Galactosidases / Q000097:blood*; D002517:Galactosylgalactosylglucosylceramidase / Q000037:antagonists & inhibitors / Q000097:blood*; D006028:Glycosphingolipids / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008055:Lipids / Q000097:blood; D008297:Male; D013997:Time Factors; D014281:Trihexosylceramides / Q000097:blood*
D003902:Detergents; D006028:Glycosphingolipids; D008055:Lipids; D014281:Trihexosylceramides; D005696:Galactosidases; D002517:Galactosylgalactosylglucosylceramidase