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Fucosidosis MeSH Descriptor Data 2026


MeSH Heading
Fucosidosis
Tree Number(s)
C10.228.140.163.100.435.295
C16.320.565.189.435.295
C16.320.565.202.303
C16.320.565.595.554.295
C18.452.132.100.435.295
C18.452.648.189.435.295
C18.452.648.202.303
C18.452.648.595.554.295
Unique ID
D005645
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D005645
Scope Note
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)
Entry Term(s)
Alpha-Fucosidase Deficiency
Deficiency Disease, alpha-Fucosidase
Deficiency Disease, alpha-L-Fucosidase
Fucosidase Deficiency
Fucosidase Deficiency Disease
Fucosidosis Type 1
Fucosidosis Type I
Fucosidosis Type II
Fucosidosis, Infantile
Fucosidosis, Juvenile
alpha-Fucosidase Deficiency Disease
alpha-L-Fucosidase Deficiency
alpha-L-Fucosidase Deficiency Disease
Previous Indexing
Carbohydrate Metabolism, Inborn Errors (1966-1984)
Fucose (1966-1984)
Fucosidase (1975-1984)
See Also
alpha-L-Fucosidase
Public MeSH Note
1985
History Note
1985
Date Introduced
1985/01/01
Last Updated
2016/06/28
Fucosidosis Preferred
Fucosidosis Type I Narrower
Fucosidosis Type II Narrower
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