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Definition: An autosomal recessive lysosomal storage disease caused by a deficiency of alpha-l-fucosidase activity resulting in an accumulation of fucose containing sphingolipids; glycoproteins, and mucopolysaccharides (glycosaminoglycans) in lysosomes. The infantile form (type I) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures, recurrent infections, and macroglossia, with death occurring in the first decade of life. Juvenile fucosidosis (type ii) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type ii survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am j med Genet 1991 Jan;38(1):111-31) |
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Synonyms: - alpha Fucosidase Deficiency Disease
- alpha L Fucosidase Deficiency Disease
- alpha-Fucosidase Deficiency Disease
- alpha-Fucosidase Deficiency Diseases
- alpha-L-Fucosidase Deficiency Disease
- alpha-L-Fucosidase Deficiency Diseases
- Deficiency Disease, alpha Fucosidase
- Deficiency Disease, alpha L Fucosidase
- Deficiency Disease, alpha-Fucosidase
- Deficiency Disease, alpha-L-Fucosidase
- Deficiency Disease, Fucosidase
- Deficiency Diseases, alpha-Fucosidase
- Deficiency Diseases, alpha-L-Fucosidase
- Deficiency Diseases, Fucosidase
- Disease, alpha-Fucosidase Deficiency
- Disease, alpha-L-Fucosidase Deficiency
- Disease, Fucosidase Deficiency
- Diseases, alpha-Fucosidase Deficiency
- Diseases, alpha-L-Fucosidase Deficiency
- Diseases, Fucosidase Deficiency
- Fucosidase Deficiency Disease
- Fucosidase Deficiency Diseases
- Fucosidosis Type I
- Fucosidosis Type II
- Fucosidosis, Infantile
- Fucosidosis, Juvenile
- Infantile Fucosidosis
- Juvenile Fucosidosis
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