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Alpha-L-fucosidase (EC 3.2.1.51) is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. At least 2 separate polymorphic alpha-L-fucosidases are recognized in man: that in tissues, FUCA1, which is deficient in fucosidosis, and that in plasma, FUCA2. Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |