title: Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.
abstract: Deficiency of alpha-L-fucosidase in plasma and leukocytes has been demonstrated in three patients affected with fucosidosis. The measurement of plasma fucosidase activity alone is of little diagnostic value. Several normal individuals were found to have extremely low plasma alpha-L-fucosidase activity, but normal activity in leukocyte preparations. The low plasma enzyme activity exhibited by clinically normal individuals appears to be an inherited characteristic. The plasma enzyme was found to be different from that of leukocytes in terms of electrophoretic mobility.
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D002648:Child; D002802:Cholinesterases / Q000097:blood; D004186:Disaccharidases / Q000097:blood*; D005823:Genetics; D005838:Genotype; D006098:Granulocytes / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology*; D008214:Lymphocytes / Q000201:enzymology; D010375:Pedigree; D005644:alpha-L-Fucosidase / Q000032:analysis / Q000097:blood* / Q000172:deficiency
chemical_list: D002802:Cholinesterases; D004186:Disaccharidases; D005644:alpha-L-Fucosidase