Diseases

Fucosidosis

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It is a lysosome storage disease due to alpha-l-fucosidase deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain.

SYMPTOMS

Psychomotor retardation
Progressive deterioration
Spasticity
Tremor
Loss of contact with environment
Frequent infections
Coarse facial appearance
Spondyloepiphyseal dysplasia
Kyphoscoliosis
Angiokeratoma corposis diffusum
Dilated gum vessels
Large tongue
Loss of learned behavior
Change in temperament
Blindness
Loss of balance
Deafness
Weight loss
From the onset, disease progress is quick and fatal.

CAUSES

Fucosidosis is caused by a mutation in the fuca1 gene, which is required to metabolize certain fats and lipids.
Fucosidosis is caused by disruptions or changes (mutations) of the alpha-l-fucosidase (fuca1) gene located on the short arm (p) of chromosome 1 (1p34). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individuals.