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.