HEXOSAMINIDASE A DEFICIENCY DISEASE Meaning and
Definition
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Hexosaminidase A deficiency disease, also known as Tay-Sachs disease, is a rare genetic disorder characterized by the body's inability to produce enough of an enzyme called hexosaminidase A. This enzyme is essential for breaking down a fatty substance called GM2 ganglioside, which is predominantly found in nerve cells. As a result of the enzyme deficiency, GM2 ganglioside accumulates abnormally in these nerve cells, leading to progressive damage and dysfunction in various parts of the body.
The disease is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit a defective gene from both parents to develop the disorder. Symptoms of hexosaminidase A deficiency disease usually become apparent in infancy or early childhood, although the severity and onset may vary among individuals. Common signs include developmental regression, loss of motor skills, muscle weakness, seizures, hearing deficits, and an impaired ability to swallow. As the disease progresses, individuals often experience vision loss, intellectual disability, and eventually become bedridden. Unfortunately, there is currently no cure for hexosaminidase A deficiency disease, and most affected individuals typically die in childhood or early adulthood due to complications such as pneumonia.
The diagnosis of hexosaminidase A deficiency disease is usually confirmed through genetic testing, which identifies mutations in the responsible HEXA gene. Prenatal testing is also available to determine whether a fetus is affected. Although there is no cure, certain supportive treatments and palliative care measures can help manage symptoms and enhance the quality of life for individuals affected by this devastating disease.
Common Misspellings for HEXOSAMINIDASE A DEFICIENCY DISEASE
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