Acatalasia
Acatalasia (pronounced: a-cat-a-lay-sia) is a rare inherited metabolic disorder characterized by the complete or partial absence of the enzyme catalase.
Etymology
The term "Acatalasia" is derived from the Greek words "a-" meaning "without", "kata-" meaning "down", and "lasis" meaning "loosening". This refers to the body's inability to break down hydrogen peroxide due to the absence of the enzyme catalase.
Definition
Acatalasia is a condition in which the body's cells lack the enzyme catalase. This enzyme is responsible for breaking down hydrogen peroxide, a toxic byproduct of metabolism, into water and oxygen. Without catalase, hydrogen peroxide can build up and damage cells, particularly in the oral cavity and the blood.
Symptoms
Symptoms of Acatalasia may include oral ulcers, gingivitis, and other oral health problems. In severe cases, it can lead to hemolytic anemia, a condition in which red blood cells are destroyed faster than they can be made.
Diagnosis
Diagnosis of Acatalasia is typically made through a blood test that measures the level of catalase in the blood. Genetic testing may also be used to confirm the diagnosis.
Treatment
There is currently no cure for Acatalasia. Treatment is focused on managing symptoms and preventing complications. This may include regular dental check-ups and good oral hygiene to prevent oral health problems.
Related Terms
See Also
External links
- Medical encyclopedia article on Acatalasia
- Wikipedia's article - Acatalasia
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