fucosidosis

[fu″ko-sĭ-do´sis] a hereditary disease due to deficient enzymatic activity of fucosidase and resulting in accumulation of fucose in all tissues; marked by progressive cerebral degeneration, muscle weakness with eventual spasticity, emaciation, cardiomegaly, thick skin, and excessive sweating.

fu·co·si·do·sis

(fyū'kō-si-dō'sis), [MIM*230000] 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.

fucosidosis

(fyo͞o-kō′sĭ-dō′sĭs)n. A lysosomal storage disease characterized by the accumulation of fucose-containing glycolipids and glycoproteins in the tissues, resulting in intellectual disability, skeletal abnormalities, angiokeratomas, and progressive neuromotor deterioration.

单词	fucosidosis
释义	fucosidosis fucosidosis [fu″ko-sĭ-do´sis] a hereditary disease due to deficient enzymatic activity of fucosidase and resulting in accumulation of fucose in all tissues; marked by progressive cerebral degeneration, muscle weakness with eventual spasticity, emaciation, cardiomegaly, thick skin, and excessive sweating. fu·co·si·do·sis (fyū'kō-si-dō'sis), [MIM*230000] 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. fucosidosis (fyo͞o-kō′sĭ-dō′sĭs)n. A lysosomal storage disease characterized by the accumulation of fucose-containing glycolipids and glycoproteins in the tissues, resulting in intellectual disability, skeletal abnormalities, angiokeratomas, and progressive neuromotor deterioration.
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