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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Fucosidosis | Legal notice |
Other terms
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, Juvenile,Juvenile Fucosidosis,alpha-L-Fucosidase Deficiency,Deficiencies, alpha-L-Fucosidase,Deficiency, alpha-L-Fucosidase,alpha L Fucosidase Deficiency,alpha-L-Fucosidase Deficiencies,Fucosidosis Type I,Fucosidosis, Infantile,Infantile Fucosidosis,Fucosidosis Type 1,1, Fucosidosis Type,Fucosidosis Type 1s,Type 1, Fucosidosis,Type 1s, Fucosidosis
Description
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)
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- Lysosomal Storage Diseases, Nervous System
- Lysosomal Storage Diseases, Nervous System
- Lysosomal Storage Diseases, Nervous System
- Lysosomal Storage Diseases, Nervous System
- Lysosomal Storage Diseases, Nervous System
- Carbohydrate Metabolism, Inborn Errors
- Lysosomal Storage Diseases, Nervous System
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