ABSTRACT
Fucosidosis is a glycoprotein storage disease in which patients have impaired degradation of fucose-containing glycoproteins. Fucosidosis is autosomal recessive. Consanguinity has commonly been noted. Defective activity of the enzyme can be demonstrated in leukocytes and cultured fibroblasts. Routine assays use artificial substrates and fluorimetric or colorimetric analysis. The different phenotypes cannot be distinguished by enzymatic assay as activity is essentially absent in all. A variety of fucose-containing glycolipids and glycoproteins accumulate in patients with fucosidosis. Thin layer chromatography and staining with orcinol gives a diagnostic pattern in fucosidosis, mannosidosis, sialidosis, and aspartylglycosaminuria. In canine fucosidosis in Springer spaniels, bone marrow transplantation led to increased enzyme activity in neural as well as visceral tissues and reduction of storage along with clinical amelioration. Bone marrow transplantation in an eight-month-old patient with fucosidosis yielded a much milder degree of developmental delay 18 months later than observed in his affected sibling at the same age.
