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 ?
1]H-NMR data, in terms of chemical shifts and coupling constants could be collected and verified thanks to the availability of so many partial structures of glycoprotein-glycans isolated from the urine of patients with inborn errors of glycan-metabolism like oligomannosidosis, sialidosis, fucosidosis,
Brooke Harvey, from Carrickfergus, Co Antrim, was two when doctors diagnosed her with fucosidosis.
Deficiency of mammalian alpha-L- fucosidases has been proved to cause the fucosidosis which results in the lethal accumulation of glycoproteins and fucosylated glycosphingolipids in the nervous system (Delves 1998).
Fucosidosis is a very rare autosomal-recessive LSD due to the deficiency of [alpha]-L-fucosidase.
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.
8) En el caso clinico presentado encontramos tres dientes supernumerarios asociados a tres dientes con macrodoncia, estos presentan aumento en todas sus dimensiones, no solo en la mesiodistal; ademas, el paciente no manifesto signos o sintomas que puedan sugerir alteraciones del desarrollo o de asociacion a sindromes relacionados con estas anomalias tales como: con hiperdoncia: Apert, angioosteohipertrofia, displasia cleidocraneal, displasia craneometafisial, Crouzon, Curtius, Down, Ehlers-Danlos, Ellis van Creveld, Fabry-Anderson Fucosidosis, Gardner, Hallermann-Streiff, incontinencia pigmentaria, Klippel-Trenaynay-Weber, Laband, Leopardo, Nance-Horan, oral-facial-digital tipos I y III, Sturge-Weber, trico-rino-falangeal.
Disorders of glycoprotein degradation: [alpha]-mannosidosis, R-mannosidosis, fucosidosis, and sialidosis.