Structured Summary
Abstract
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
35 entry terms
- Alpha-Fucosidase Deficiency
- Deficiency Disease, alpha-Fucosidase
- Deficiency Disease, alpha-L-Fucosidase
- Fucosidase Deficiency
- Fucosidase Deficiency Disease
- alpha-Fucosidase Deficiency Disease
- alpha-L-Fucosidase Deficiency
- alpha-L-Fucosidase Deficiency Disease
- Deficiency Disease, Fucosidase
- Deficiency Disease, alpha Fucosidase
- Deficiency Disease, alpha L Fucosidase
- Deficiency Diseases, Fucosidase
- Deficiency Diseases, alpha-Fucosidase
- Deficiency Diseases, alpha-L-Fucosidase
- Disease, Fucosidase Deficiency
- Disease, alpha-Fucosidase Deficiency
- Disease, alpha-L-Fucosidase Deficiency
- Diseases, Fucosidase Deficiency
- Diseases, alpha-Fucosidase Deficiency
- Diseases, alpha-L-Fucosidase Deficiency
- Fucosidase Deficiency Diseases
- alpha Fucosidase Deficiency Disease
- alpha L Fucosidase Deficiency Disease
- alpha-Fucosidase Deficiency Diseases
- alpha-L-Fucosidase Deficiency Diseases
- Fucosidosis Type 1
- Fucosidosis Type I
- Fucosidosis Type II
- Fucosidosis, Infantile
- Fucosidosis, Juvenile
- Fucosidosis Type 1s
- Infantile Fucosidosis
- Juvenile Fucosidosis
- Type 1, Fucosidosis
- Type 1s, Fucosidosis
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
1985
MeSH Record
Previous Indexing
- Carbohydrate Metabolism, Inborn Errors (1966-1984)
- Fucose (1966-1984)
- Fucosidase (1975-1984)
MeSH Hierarchy
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AMA Style
References
- National Library of Medicine. Fucosidosis. Medical Subject Headings (MeSH). 2026. Unique ID D005645. http://id.nlm.nih.gov/mesh/2026/D005645
- Fucosidosis. In: Wikipedia. https://en.wikipedia.org/wiki/Fucosidosis
- Fucosidosis. In: Wikidata. https://www.wikidata.org/wiki/Q177878