Search Login Register

Fucosidosis Summary

Description: 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 Show All >>

Networked: 134 relevant articles (3 outcomes, 4 trials/studies) for this Disease

Key Drugs and Agents for Fucosidosis

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. alpha-L-Fucosidase (Fucosidase) : 2 studies in 77 results : IBA
  2. Neuraminidase deficiency with beta-galactosidase deficiency : 1 study in 8 results : IBA
  3. Ceroid : 1 study in 2 results : IBA
  4. chitotriosidase : 1 study in 2 results : IBA
  5. Kanzaki disease : 1 study in 1 result : IBA
  6. Fucose : 16 results : IBA
  7. Oligosaccharides : 14 results : IBA
  8. Glycoproteins (Glycoprotein) : 9 results : IBA
  9. Complementary DNA (cDNA) : 5 results : IBA
  10. Messenger RNA (mRNA) : 5 results : IBA
Show All >>

Diseases Related to Fucosidosis

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

Key Therapies for Fucosidosis

Efficacy Chart >>
  1. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 1 outcome in 7 results
  2. Enzyme Replacement Therapy : 1 outcome in 3 results
  3. Transplants (Transplant) : 1 outcome in 1 result
  4. Lymphatic Irradiation : 3 results
  5. Anesthesia : 2 results
Show All >>

CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.