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fucosidosis
Used for:
alpha fucosidase deficiency
Broader Terms:
enzyme deficiency
Broader Terms:
inborn carbohydrate metabolism disorder
Broader Terms:
inborn lysosomal enzyme disorder
Related Terms:
autosomal recessive trait
Scope Note:
lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures.
Term Number:
1849-8519
Send your comments to: Melody Lowe