fucosidosis

A metabolic storage disease characterized by accumulation of fucose-containing glycolipids and deficiency of the enzyme α-fucosidase; progressive neurologic deterioration begins after the first year of life, accompanied by spasticity, tremor, and mild skeletal changes; autosomal recessive inheritance, caused by mutation in the α-1-fucosidase gene on chromosome 1.

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fu·co·si·do·sis -.kō-sə-'dō-səs n, pl -do·ses -.sēz a disorder of metabolism inherited as a recessive trait and characterized by progressive neurological degeneration, deficiency of the alpha stereoisomer of fucosidase, and accumulation of fucose-containing carbohydrates

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fu·co·si·do·sis (fu″ko-sĭ-doґsis) a lysosomal storage disease caused by defective α-L-fucosidase and accumulation of fucose-containing glycoconjugates. It results from mutations in the FUCA1 gene (locus: 1p34). Clinical symptoms include angiokeratoma, psychomotor deterioration, coarse facies, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. There are two clinical types based on age of onset: Type I, the fatal infantile type, has age of onset by 18 months and causes death before six years of age. Marked increase of sodium chloride in sweat is an additional feature. Type II, the juvenile form, has age of onset by four years of age and slower psychomotor and neurologic deterioration; patients survive to their twenties.