What is Acatalasemia

Acatalasemia is a rare genetic disorder characterized by the absence or reduced levels of an enzyme called catalase. Catalase plays a crucial role in breaking down hydrogen peroxide, a harmful byproduct of cell metabolism, into water and oxygen. Without sufficient catalase, hydrogen peroxide accumulates and can cause oxidative damage to cells and tissues.

Individuals with acatalasemia may experience various symptoms, including oral ulcers, gum infections, and spontaneous gum bleeding. They may also be more prone to developing skin lesions, particularly on the hands and feet. In severe cases, acatalasemia can lead to vision problems, hearing loss, and an increased risk of developing diabetes.

Diagnosis of acatalasemia is typically confirmed through genetic testing. While there is no specific cure for this condition, management focuses on symptom relief and preventing complications. This may involve maintaining good oral hygiene, avoiding hydrogen peroxide-containing substances, and addressing any associated health issues.

Research is ongoing to better understand acatalasemia and develop potential treatments. Genetic counseling is recommended for individuals with a family history of the disorder or those planning to have children, as it can be inherited in an autosomal recessive manner.