Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the a...
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http://en.wikipedia.org/wiki/Fucosidosis
An autosomally recessive inherited metabolic disorder in which deficiency of alpha-1-fucosidase activity results in accumulation of fucose-containing sphingolipids, glycoproteins, and mucopolysaccharides in lysosomes. ... (12 Dec 1998) ...
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http://www.encyclo.co.uk/local/20973
(fu″ko-sĭ-do´sis) a hereditary disease due to deficient enzymatic activity of α-L-fucosidase that results in accumulation of fucose in all tissues, with progressive cerebral degeneration, muscle weakness with eventual spasticity, emaciation, enlargement of the heart, thick skin, and excessive sweating.
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http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: fyū′kō-si-dō′sis Definitions: 1. 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 skeleta...
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http://www.medilexicon.com/medicaldictionary.php?t=35665
No exact match found.
