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
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
Concept/Terms	Fucosidosis Fucosidosis alpha-L-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 Deficiency Disease, alpha-L-Fucosidase Deficiency Disease, alpha L Fucosidase 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 Fucosidosis Type II Fucosidosis Type II Fucosidosis, Juvenile Juvenile Fucosidosis Fucosidosis Type I Fucosidosis Type I Fucosidosis, Infantile Infantile Fucosidosis Fucosidosis Type 1 1, Fucosidosis Type Fucosidosis Type 1s Type 1, Fucosidosis Type 1s, Fucosidosis

Below are MeSH descriptors whose meaning is more general than "Fucosidosis".

Below are MeSH descriptors whose meaning is related to "Fucosidosis".

Below are MeSH descriptors whose meaning is more specific than "Fucosidosis".