Fucosidosis

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:

Alpha-Fucosidase Deficiency; Deficiency Disease, alpha-Fucosidase; Deficiency Disease, alpha-L-Fucosidase; Fucosidase Deficiency; 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; 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

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188
    - Inborn Errors Carbohydrate Metabolism
      - Fucosidosis: 188
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188
    - Inborn Errors Carbohydrate Metabolism
      - Fucosidosis: 188
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Fucosidosis: 188

Alireza E Soltani Selected Research

Alireza E Soltani Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure