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)

Synonyms: Juvenile Fucosidosis Deficiency Diseases, alpha-Fucosidase Fucosidase Deficiency Diseases Infantile Fucosidosis Diseases, alpha-L-Fucosidase Deficiency Disease, alpha-Fucosidase Deficiency Alpha-Fucosidase Deficiency Deficiency Disease, alpha-Fucosidase alpha-L-Fucosidase Deficiency Disease Deficiency Disease, alpha L Fucosidase alpha L Fucosidase Deficiency Disease Fucosidosis Type I Deficiency Diseases, Fucosidase Fucosidosis, Infantile alpha-Fucosidase Deficiency Disease Type 1s, Fucosidosis Deficiency Disease, alpha Fucosidase Diseases, alpha-Fucosidase Deficiency Diseases, Fucosidase Deficiency Fucosidosis Fucosidosis, Juvenile Fucosidase Deficiency Deficiency Disease, alpha-L-Fucosidase Fucosidosis Type 1s Deficiency Disease, Fucosidase Fucosidosis Type II Fucosidase Deficiency Disease Disease, Fucosidase Deficiency Deficiency Diseases, alpha-L-Fucosidase alpha-L-Fucosidase Deficiency Diseases alpha-Fucosidase Deficiency Diseases Type 1, Fucosidosis alpha-L-Fucosidase Deficiency Disease, alpha-L-Fucosidase Deficiency Fucosidosis Type 1 alpha Fucosidase Deficiency Disease