INFANTILE FUCOSIDOSIS Meaning and
Definition
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Infantile fucosidosis is a rare genetic disorder characterized by the deficiency or absence of an enzyme called alpha-L-fucosidase. This enzyme is responsible for breaking down certain complex molecules in the body known as fucosylated glycoconjugates. As a result of this enzyme deficiency, these molecules accumulate in various tissues and organs, leading to progressive and severe damage.
Infantile fucosidosis typically manifests within the first few months of life and is characterized by a variety of symptoms. These may include developmental delays, impaired growth, distinctive facial features, liver and spleen enlargement, skeletal abnormalities such as a curved spine, respiratory problems, intellectual disability, and seizures. Affected individuals may also exhibit neurological signs such as muscle stiffness, involuntary movements, and difficulty coordinating voluntary movements.
This disorder is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the defective gene - one from each parent. The gene responsible for the production of alpha-L-fucosidase is called FUCA1, and mutations in this gene are responsible for infantile fucosidosis. Genetic counseling and carrier testing may be offered to families with a history of this disorder.
Unfortunately, there is currently no cure for infantile fucosidosis. Treatment mainly focuses on managing the symptoms and improving the affected individual's quality of life. Supportive measures may include physical and occupational therapy, medications to control seizures and other symptoms, and nutritional support. Research efforts are ongoing to explore potential treatments and improve the long-term prognosis of individuals with this rare disorder.
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Etymology of INFANTILE FUCOSIDOSIS
The term "Infantile Fucosidosis" consists of two parts: "infantile" and "fucosidosis".
The word "infantile" comes from the Latin word "infans", which means "not able to speak" or "speechless". It is derived from the combination of "in" (not) and "fari" (to speak). "Infantile" refers to something related to infancy or characteristic of an infant.
"Fucosidosis" is a medical term derived from the prefix "fucosi-" and the suffix "-dosis". The prefix "fucosi-" comes from the sugar molecule fucose, which is involved in various biological processes. The suffix "-dosis" is derived from the Greek word "dósis", meaning "a condition" or "a state".
