Absence of alpha-fucosidase activity in two sisters showing a different phenotype.
Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete alpha-L-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of alpha-L-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000201:enzymology; D010641:Phenotype; D005644:alpha-L-Fucosidase / Q000172:deficiency*
D005643:Fucose; D005644:alpha-L-Fucosidase