|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Fucosidosis
|
|
Descriptor Spanish:
|
|
Fucosidosis
|
|
Descriptor Portuguese:
|
|
Fucosidose
|
|
Synonyms English:
|
|
Alpha-Fucosidase Deficiency
Deficiency Disease, Fucosidase
Deficiency Disease, alpha Fucosidase
Deficiency Disease, alpha L 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
Fucosidase Deficiency Disease
Fucosidase Deficiency Diseases
Fucosidosis Type 1
Fucosidosis Type 1s
Fucosidosis Type I
Fucosidosis Type II
Fucosidosis, Infantile
Fucosidosis, Juvenile
Infantile Fucosidosis
Juvenile Fucosidosis
Type 1, Fucosidosis
Type 1s, Fucosidosis
alpha Fucosidase Deficiency Disease
alpha L Fucosidase Deficiency Disease
alpha-Fucosidase Deficiency Disease
alpha-Fucosidase Deficiency Diseases
alpha-L-Fucosidase Deficiency
alpha-L-Fucosidase Deficiency Disease
alpha-L-Fucosidase Deficiency Diseases
|
|
Tree Number:
|
|
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
|
|
Definition English:
|
|
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) |
|
See Related English:
|
|
alpha-L-Fucosidase
|
|
History Note English:
|
|
1985
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
5780
|
|
Unique Identifier:
|
|
D005645
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS
|
|