MeSH Browser

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 Established: 1985/01/01
Date of Entry: 1984/05/29
Revision Date: 2016/06/28

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]
        
        Glycogen Storage Disease Type II [C10.228.140.163.100.435.340]
        
        Mucolipidoses [C10.228.140.163.100.435.590]
        
        Sialic Acid Storage Disease [C10.228.140.163.100.435.810]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]

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]
        
        Glycogen Storage Disease Type II [C16.320.565.189.435.340]
        
        Mucolipidoses [C16.320.565.189.435.590]
        
        Sialic Acid Storage Disease [C16.320.565.189.435.810]
        
        Sphingolipidoses [C16.320.565.189.435.825]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Lysosomal Storage Diseases [C16.320.565.595]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Fucosidosis [C16.320.565.595.554.295]
        
        Glycogen Storage Disease Type II [C16.320.565.595.554.340]
        
        Mucolipidoses [C16.320.565.595.554.590]
        
        Sialic Acid Storage Disease [C16.320.565.595.554.810]
        
        Sphingolipidoses [C16.320.565.595.554.825]

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]
        
        Glycogen Storage Disease Type II [C18.452.132.100.435.340]
        
        Mucolipidoses [C18.452.132.100.435.590]
        
        Sialic Acid Storage Disease [C18.452.132.100.435.810]
        
        Sphingolipidoses [C18.452.132.100.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - 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]
        
        Glycogen Storage Disease Type II [C18.452.648.189.435.340]
        
        Mucolipidoses [C18.452.648.189.435.590]
        
        Sialic Acid Storage Disease [C18.452.648.189.435.810]
        
        Sphingolipidoses [C18.452.648.189.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Fucosidosis [C18.452.648.595.554.295]
        
        Glycogen Storage Disease Type II [C18.452.648.595.554.340]
        
        Mucolipidoses [C18.452.648.595.554.590]
        
        Sialic Acid Storage Disease [C18.452.648.595.554.810]
        
        Sphingolipidoses [C18.452.648.595.554.825]

Fucosidosis Preferred

Concept UI: M0008875
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)
Terms: Fucosidosis Preferred Term
Term UI T017082
Date01/01/1999
LexicalTag NON
ThesaurusID; Fucosidase Deficiency Disease
Term UI T368132
Date11/03/1999
LexicalTag NON
ThesaurusID; alpha-Fucosidase Deficiency Disease
Term UI T368133
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); alpha-L-Fucosidase Deficiency Disease
Term UI T368134
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Deficiency Disease, alpha-Fucosidase
Term UI T368135
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Deficiency Disease, alpha-L-Fucosidase
Term UI T368136
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); alpha-L-Fucosidase Deficiency
Term UI T760853
Date11/13/2009
LexicalTag NON
ThesaurusID; Alpha-Fucosidase Deficiency
Term UI T841465
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Fucosidase Deficiency
Term UI T841466
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Fucosidosis Type I Narrower

Fucosidosis Type II Narrower

Fucosidosis MeSH Descriptor Data 2024