Fucosidosis

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Fucosidosis Classification and external resources
Fucose
ICD-10	E 77.1
ICD-9	271.8
OMIM	230000
DiseasesDB	29471
MeSH	D005645

Fucosidosis is an autosomal recessive metabolic disorder in which fucosidase is not properly used in the cells to break down fucose.

[edit] Types

There are at least two types of fucosidosis.

In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year.
In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.

Fucosidosis has an autosomal recessive pattern of inheritance.

[edit] External links

v • d • e Inborn error of carbohydrate metabolism - Lysosomal storage diseases: glycoprotein metabolic pathology - Glycoproteinosis, including mucolipidosis (E77, 272.7)

Post-translational modification of lysosomal enzymes	I-cell disease/II - Pseudo-Hurler polydystrophy/III

Glycoprotein degradation	Aspartylglucosaminuria - Fucosidosis - mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) - Sialidosis/I

Other	Mucolipidosis type IV - Salla disease - Galactosialidosis

see also enzymes