A type of lysosomal storage disease that is often caused by a deficiency of alpha-fucosidase resulting in the accumulation of fucose-containing glycolipids in cells and tissues
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is fucosidosis. This metabolic disorder is associated with pathological mutations in the FUCA 1 gene. In humans, this gene is located on chromosome 1. A defective FUCA 1 gene affects the production of alpha-fucosidase, i.e. an enzyme that catalyzes the hydrolysis of alpha-L-fucoside. Without an appropriate level of functional alpha-fucosidase, fucose-containing glycolipids tend to accumulate in cells. A buildup of this complex sugar in the cell leads to cell death. The condition is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms. Some of the symptoms are progressive neurologic deterioration, tremor, spasticity, and mild skeletal changes.