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)
Also Known As:
Deficiency Disease, alpha-Fucosidase; Deficiency Disease, alpha-L-Fucosidase; 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; 1, Fucosidosis Type; Deficiency Disease, 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 Diseases; Fucosidosis Type 1s; Infantile Fucosidosis; Juvenile Fucosidosis; Type 1, Fucosidosis; Type 1s, Fucosidosis; alpha Fucosidase Deficiency Disease; alpha L Fucosidase Deficiency Disease; alpha-Fucosidase Deficiency Diseases; alpha-L-Fucosidase Deficiency Diseases; Fucosidase Deficiency Disease
Networked: 134 relevant articles (3 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mannosidase Deficiency Diseases (Mannosidosis)
2. Metachromatic Leukodystrophy (Sulfatide Lipidosis)
3. Globoid Cell Leukodystrophy (Krabbe Disease)
4. Gaucher Disease (Gaucher's Disease)
5. Aspartylglucosaminuria


1. Williamson, Peter: 3 articles (01/2015 - 08/2011)
2. Hopwood, John J: 3 articles (01/2015 - 10/2005)
3. Kondagari, Gauthami Sudhamayee: 2 articles (01/2015 - 01/2011)
4. Taylor, Rosanne M: 2 articles (11/2011 - 08/2011)
5. Kondagari, Gauthami S: 2 articles (11/2011 - 08/2011)
6. Thomson, Peter C: 2 articles (11/2011 - 08/2011)
7. Clements, Peter R: 2 articles (08/2011 - 10/2005)
8. Datar, Chaitanya: 1 article (12/2015)
9. Bhavsar, Riddhi: 1 article (12/2015)
10. Sheth, Frenny: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fucosidosis:
1. alpha-L-Fucosidase (Fucosidase)IBA
2. Neuraminidase deficiency with beta-galactosidase deficiencyIBA
3. CeroidIBA
4. chitotriosidaseIBA
5. Kanzaki diseaseIBA
6. FucoseIBA
7. OligosaccharidesIBA
8. Glycoproteins (Glycoprotein)IBA
9. Complementary DNA (cDNA)IBA
10. Messenger RNA (mRNA)IBA

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Enzyme Replacement Therapy
3. Transplants (Transplant)
4. Lymphatic Irradiation
5. Anesthesia