What is Acatalasemia?

Acatalasemia is a rare autosomal recessive genetic disorder characterized by a deficiency or complete absence of the enzyme catalase in the red blood cells and other tissues. Catalase is an antioxidant enzyme that helps protect cells from damage caused by hydrogen peroxide and other reactive oxygen species.

Symptoms

Acatalasemia can cause a variety of symptoms, including:

- Recurrent mouth ulcers

- Periodontal disease

- Skin infections

- Joint pain

- Fatigue

- Weakness

- Short stature

- Intellectual disability

In severe cases, acatalasemia can lead to a condition called acrocyanosis, which is characterized by blue discoloration of the hands and feet due to poor circulation. Acatalasemia can also increase the risk of developing certain types of cancer, such as leukemia and lymphoma.

Treatment

There is no cure for acatalasemia, but treatment can help to manage the symptoms and prevent complications. Treatment may include:

- Antioxidant supplements: Antioxidants, such as vitamin C and vitamin E, can help to protect cells from damage caused by free radicals.

- Blood transfusions: Blood transfusions may be necessary to correct anemia and other blood disorders caused by acatalasemia.

- Bone marrow transplant: A bone marrow transplant may be necessary in severe cases of acatalasemia.

- Supportive care: Supportive care may include measures to prevent and treat infections, manage pain, and promote overall health.

Outlook

The outlook for people with acatalasemia varies depending on the severity of the disorder and the promptness of treatment. With proper treatment, most people with acatalasemia can live relatively normal lives.