FUCOSIDOSIS TYPE I Meaning and
Definition
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Fucosidosis Type I is a rare genetic disorder characterized by a deficiency or malfunctioning of the enzyme alpha-L-fucosidase. This enzyme is responsible for breaking down complex molecules called fucose-containing oligosaccharides, which are found in various tissues and organs throughout the body. When the enzyme is deficient or not functioning properly, these complex molecules accumulate in the lysosomes, which are small compartments within cells that help degrade waste materials.
As a result of this accumulation, individuals with Fucosidosis Type I experience progressive damage to multiple systems in the body, including the central nervous system, liver, spleen, lungs, and kidneys. The disorder typically presents during infancy or early childhood, with symptoms including developmental delay, intellectual disability, neurological abnormalities, coarse facial features, skeletal abnormalities, hepatosplenomegaly (enlarged liver and spleen), recurrent respiratory infections, and progressive deterioration of motor and cognitive functions.
Fucosidosis Type I follows an autosomal recessive inheritance pattern, meaning that affected individuals inherit two copies of the mutated gene, one from each parent who are typically carriers of the condition. The disorder is caused by mutations in the FUCA1 gene, which provides instructions for making the alpha-L-fucosidase enzyme. Treatment options for Fucosidosis Type I are limited and mainly focus on managing symptoms and providing supportive care to affected individuals.
Common Misspellings for FUCOSIDOSIS TYPE I
- ducosidosis type i
- cucosidosis type i
- vucosidosis type i
- gucosidosis type i
- tucosidosis type i
- rucosidosis type i
- fycosidosis type i
- fhcosidosis type i
- fjcosidosis type i
- ficosidosis type i
- f8cosidosis type i
- f7cosidosis type i
- fuxosidosis type i
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- fudosidosis type i
- fucisidosis type i
- fucksidosis type i
- fuclsidosis type i
- fucpsidosis type i
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