"Fucosidosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D005645
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MeSH 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
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Concept/Terms |
Fucosidosis- Fucosidosis
- alpha-Fucosidase Deficiency Disease
- Deficiency Diseases, alpha-Fucosidase
- Disease, alpha-Fucosidase Deficiency
- Diseases, alpha-Fucosidase Deficiency
- alpha Fucosidase Deficiency Disease
- alpha-Fucosidase Deficiency Diseases
- alpha-L-Fucosidase Deficiency Disease
- Deficiency Diseases, alpha-L-Fucosidase
- Disease, alpha-L-Fucosidase Deficiency
- Diseases, alpha-L-Fucosidase Deficiency
- alpha L Fucosidase Deficiency Disease
- alpha-L-Fucosidase Deficiency Diseases
- Fucosidase Deficiency
- Deficiency Disease, alpha-L-Fucosidase
- Deficiency Disease, alpha L Fucosidase
- alpha-L-Fucosidase Deficiency
- Alpha-Fucosidase Deficiency
- Fucosidase Deficiency Disease
- Deficiency Disease, Fucosidase
- Deficiency Diseases, Fucosidase
- Disease, Fucosidase Deficiency
- Diseases, Fucosidase Deficiency
- Fucosidase Deficiency Diseases
- Deficiency Disease, alpha-Fucosidase
- Deficiency Disease, alpha Fucosidase
Fucosidosis Type I- Fucosidosis Type I
- Fucosidosis Type 1
- Fucosidosis Type 1s
- Type 1, Fucosidosis
- Type 1s, Fucosidosis
- Fucosidosis, Infantile
- Infantile Fucosidosis
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Below are MeSH descriptors whose meaning is more general than "Fucosidosis".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Fucosidosis [C10.228.140.163.100.435.295]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Fucosidosis [C16.320.565.189.435.295]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Fucosidosis [C16.320.565.202.303]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Fucosidosis [C16.320.565.595.554.295]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Fucosidosis [C18.452.132.100.435.295]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Fucosidosis [C18.452.648.189.435.295]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Fucosidosis [C18.452.648.202.303]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Fucosidosis [C18.452.648.595.554.295]
Below are MeSH descriptors whose meaning is more specific than "Fucosidosis".
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