JUVENILE FUCOSIDOSIS Meaning and
Definition
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Juvenile fucosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-L-fucosidase, which is responsible for breaking down certain complex sugars in the body. This deficiency results in the accumulation of these sugars, called fucosylated glycoproteins, within the cells and tissues, particularly in the brain and other organs.
The condition typically presents in infancy or early childhood and progresses rapidly, leading to severe neurological and developmental problems. Symptoms may include growth retardation, impaired motor skills, muscle weakness, intellectual disability, seizures, impaired vision, and hearing loss. Affected individuals may also exhibit abnormal facial features, such as a prominent forehead, widely spaced eyes, and a large nose.
Juvenile fucosidosis is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the faulty gene, one from each parent, in order to develop the disorder. The faulty gene responsible for the condition is called the FUCA1 gene.
Currently, there is no cure for juvenile fucosidosis, and treatment mainly focuses on managing the symptoms and providing supportive care. This may involve physical and occupational therapy to improve mobility and function, medications to control seizures and other medical complications, and specialized education to accommodate the learning difficulties associated with the condition.
Overall, juvenile fucosidosis is a rare and debilitating genetic disorder characterized by the deficiency of alpha-L-fucosidase enzyme, leading to the accumulation of complex sugars in various organs, resulting in severe neurological and developmental impairments.
Common Misspellings for JUVENILE FUCOSIDOSIS
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Etymology of JUVENILE FUCOSIDOSIS
The term "Juvenile Fucosidosis" is a medical condition, and its etymology can be understood by breaking down the words individual:
1. Juvenile: The word "juvenile" comes from the Latin word "juvenis", meaning young or youthful. In the medical context, it refers to a disease or condition that primarily affects individuals during their youth or childhood.
2. Fucosidosis: "Fucosidosis" is a genetic disorder characterized by a deficiency of an enzyme called alpha-L-fucosidase. The term "fucosidosis" is derived from "fucose", a type of sugar that the enzyme is responsible for breaking down, and the suffix "-osis", which is commonly used in medical terminology to indicate a pathological condition.
Therefore, "Juvenile Fucosidosis" suggests a type of fucosidosis that primarily affects young individuals or children.
