Condition
Fucosidosis
Neurology
Overview
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)
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Fucosidosis
- Topic type
- Condition
- Category
- Neurology
- MeSH classification
- C10.228.140.163.100.435.295|C16.320.565.189.435.295|C16.320.565.202.303|C16.320.565.595.554.295|C18.452.132.100.435.295|C18.452.648.189.435.295|C18.452.648.202.303|C18.452.648.595.554.295
Preparing for an appointment about Fucosidosis
If you are speaking with a healthcare professional about Fucosidosis, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.