Acatalasia is an autosomal recessive peroxisomal disorder caused by absent or very low levels of the enzyme catalase. Catalase breaks down hydrogen peroxide in cells into water and oxygen. Low levels of catalase can cause hydrogen peroxide to build up, causing damage to cells.
The disorder is relatively benign, although it causes an increased incidence of oral ulcers, and can under rare circumstances lead to gangrene. Symptoms primary affect children.
Acatalasia is often the result of mutations ...
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