Disease-gene associations mined from literature

Human genes for fucosidosis

Fucosidosis [DOID:14500]

Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose.:538 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.

Synonyms:  fucosidosis,  DOID:14500,  A-fucosidase deficiency,  Fucosidosis (disorder),  alpha fucosidase deficiency ...

Linkouts:  OMIM