Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. More detailed information about the symptoms, causes, and treatments of Fucosidosis is available below.
See full list of 12 symptoms of Fucosidosis
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Visit our research pages for current research about Fucosidosis treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Fucosidosis include:
Read more about Clinical Trials for Fucosidosis
Read about other experiences, ask a question about Fucosidosis, or answer someone else's question, on our message boards:
Lysosome storage disease due to alpha-L-fucosidase (E.C. 3.2.1.51) deficiency in leukocytes manifested by abnormal accumulation in tissues and urinary excretion of partially catabolized oligosaccharides, glycoasparagines, and glycolipids with alpha-linked fucose at the nonreducing end of the glycogen chain. The phenotype is variable and may include delayed growth and mental development, progressive neurological deterioration, Hurler-like (mucopolysaccharidosis I-H) coarse facies, recurrent infections, visceromegaly, skeletal abnormalities, joint contractures, deafness, and angiokeratoma corporis diffusum. Several types are recognized by different researchers. The form exhibiting a longer survival, mild neurological manifestations, and angiokeratoma is sometimes referred to as fucosidosis type II. In a different scheme, three different types are recognized according to their age of onset. Types I and II are the most severe and have their onsets at 10 and 18 months, respectively with life expectancy of 6 years. Type III represents a juvenile form which is marked by a milder form of psychomotor retardation and a slower deterioration of neurological activities. Hurler-like (gargyloid) facies occur mainly in types I and II and is less commonly in type III. - (Source - Diseases Database)
Fucosidosis is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Fucosidosis, or a subtype of Fucosidosis,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Fucosidosis as a "rare disease".
Source - Orphanet
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