Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
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Christomanou, H., Beyer, D. Absence of α-fucosidase activity in two sisters showing a different phenotype. Eur J Pediatr 140, 27–29 (1983). https://doi.org/10.1007/BF00661900
- Mental deterioration
- Clinical heterogeneity