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Diseases » Fucosidosis » Summary
 

What is Fucosidosis?

What is Fucosidosis?

  • 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.
  • Fucosidosis: 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

Fucosidosis: Introduction

Types of Fucosidosis:

Broader types of Fucosidosis:

How serious is Fucosidosis?

Complications of Fucosidosis: see complications of Fucosidosis

What causes Fucosidosis?

Causes of Fucosidosis: see causes of Fucosidosis

What are the symptoms of Fucosidosis?

Symptoms of Fucosidosis: see symptoms of Fucosidosis

Complications of Fucosidosis: see complications of Fucosidosis

Can anyone else get Fucosidosis?

More information: see contagiousness of Fucosidosis
Inheritance: see inheritance of Fucosidosis

Fucosidosis: Testing

Misdiagnosis: see misdiagnosis and Fucosidosis.

How is it treated?

Doctors and Medical Specialists for Fucosidosis: Medical Geneticist ; see also doctors and medical specialists for Fucosidosis.
Treatments for Fucosidosis: see treatments for Fucosidosis
Research for Fucosidosis: see research for Fucosidosis

Name and Aliases of Fucosidosis

Main name of condition: Fucosidosis

Other names or spellings for Fucosidosis:

Alpha-l-fucosidase deficiency, Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

Alpha-L-fucosidase deficiency, Alpha-fucosidase deficiency Source - Diseases Database

Alpha-l-fucosidase deficiency, Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Fucosidosis: Related Conditions

Research the causes of these diseases that are similar to, or related to, Fucosidosis:

 

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