Medical Term:

fucosidosis

Pronunciation: fyū′kō-si-dō′sis

Definition: 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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