fucosidosis


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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.
References in periodicals archive ?
66 Neu5Ac3Hexose6HexNAc4 + + m/z Predicted Predicted components Fucosidosis structure (n = 2) (a) 599.
Disorders of glycoprotein degradation and structure: a-mannosidosis, P-mannosidosis, fucosidosis, sialidosis, aspartylglucosaminuria and carbohydrate-deficient glycoprotein syndrome.
The systemic form of angiokeratoma is associated with Fabry disease and fucosidosis.
Genetic conditions often present at birth (all are rare conditions) & which are associated with hereditary fibromatosis include I-cell disease, mucopolysaccharidoses, fucosidosis, aspartyl glucosaminuria, Pfeiffer's syndrome, infantile systemic hyalinosis, & primary amyloidosis.
Disorders of glycoprotein degradation: [alpha]-mannosidosis, R-mannosidosis, fucosidosis, and sialidosis.
4A) can help to identify this metabolite in the urine of a patient with fucosidosis (Fig.
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes and Gaucher disease type III.
org/~acaf 1,2,8,9; French materials FUCOSIDOSIS See: Tay-Sachs Disease FULLER-ALBRIGHT SYNDROME See: McCune-Albright Syndrome FULMINATING HYPERPYREXIA See: Malignant Hyperthermia GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY See: Galactosemia GALACTOSEMIA See also: Metabolic Disorders, Liver Disease Parents of Galactosemic Children Inc.
org/~acaf 1,2,8,9; French materials FUCOSIDOSIS See: Tay-Sachs Disease FULLER-ALBRIGHT SYNDROME See: McCune-Albright Syndrome FULMINATING HYPERPYREXIA See: Malignant Hyperthermia G SYNDROME See: Opitz Syndrome GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE DEFICIENCY See: Galactosemia GALACTOSEMIA See also: Metabolic Disorders, Liver Disease Parents of Galactosemic Children Inc.
This test, therefore, can be used in large-scale screening for fucosidosis where values are lower than the low variant (13).