Purification and serological studies of human alpha-L-fucosidase in the normal and fucosidosis states.
An antiserum has been raised to purified alpha-L-fucosidase. Levels of cross-reaction with serum of two unrelated fucosidosis patients and normal individuals with low activity are consistent with the presence of very low amounts of normal enzyme. Similarly no cross-reacting material could be found in cultured fibroblasts from fucosidosis patients. It is deduced that in these cases there is no production of mutant enzyme in quantities comparable to normal levels. Some observations on the interrelations of fucosidases I and II are reported.
D000818:Animals; D000906:Antibodies / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D002846:Chromatography, Affinity; D002850:Chromatography, Gel; D003429:Cross Reactions; D004591:Electrophoresis, Polyacrylamide Gel; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D005779:Immunodiffusion; D008099:Liver / Q000201:enzymology; D011817:Rabbits / Q000276:immunology; D005644:alpha-L-Fucosidase / Q000097:blood* / Q000302:isolation & purification
D000906:Antibodies; D005643:Fucose; D005644:alpha-L-Fucosidase