fucosidosis

fucosidosis An inherited lysosomal storage disease characterized by lack of the enzyme fucosidase. Without fucosidase, there is accumulation of fucose in the tissues. Fucosidosis is an autosomal recessive disorder. The gene that is responsible for fucosidosis, FUCA1, is on chromosome 1. Fucosidosis in its most severe form can cause neurologic deterioration, growth retardation, visceromegaly (enlargement of the internal organs), and seizures.