Tags: Disease.
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body which leads to death.Fucosidosis 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 1p36 – p34 by Carrit and co-workers in 1982.
