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.
随便看	to laugh in the sleeve to laugh one out of to laugh to scorn to lay about to lay against the field to lay an ambush to lay an anchor to the windward to lay an egg to lay (a ship) aboard to lay asleep to lay at to lay a venue to lay bare to lay by the heels to lay claim to to lay down the law to lay eyes on to lay for to lay hands on to lay heads together to lay in balance to lay in for to lay in lavender to lay it on the line to lay it on thick