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fucosidosis

Pronunciation: fyu'ko-si-do'sis

Definition: A metabolic storage disease characterized by accumulation of fucose-containing glycolipids and deficiency of the enzyme a-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 a-1-fucosidase gene on chromosome 1.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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