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Fucosidosis, also called alpha-l-fucosidase deficiency,[1] is a rare autosomal recessive[2] lysosomal storage disease[3] in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome. When the enzyme is absent, sugar chains accumulate and eventually lead to the clinical features of Fucosidosis. The symptoms of this disorder may progress in degrees of severity over time.
Focosidosis is one of nine identified Glycoprotein Storage Diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1, by Carrit and co-workers, in 1982.
There are two different types of Fucosidosis, Type I and Type II, characterized by the age of onset and by the types of physical and mental manifestations of the disorder.
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