fucosidosis

(redirected from Fucosidosis type 1)

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

/fu·co·si·do·sis/ (fu″ko-sĭ-do´sis) a lysosomal storage disease caused by deficient enzymatic activity of fucosidase and accumulation of fucose-containing glycoconjugates in all tissues; it is marked by progressive psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.

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.

fucosidosis

[fyo̅o̅′kōsidō′sis]
a hereditary lysosomal storage disorder that results from the absence of the enzyme required to metabolize fucoside moieties. It causes mental retardation, neurological deterioration, coarse facial features, thickened skin, and hepatosplenomegaly.