Acatalasia

Acatalasia (a- + catalase) is a rare hereditary disease characterized by a deficiency or complete absence of the catalase enzyme in the body.

Catalase is an antioxidant enzyme that breaks down hydrogen peroxide, protecting cells from oxidative stress. In acatalasia, the activity of this enzyme is reduced, which leads to the accumulation of toxic hydrogen peroxide in tissues and the development of oxidative damage.

The disease is characterized by increased sensitivity to infections, a tendency to form ulcers of the oral mucosa, and the development of premature gray hair. In some cases, cerebrovascular accidents and neurological disorders are observed.

Diagnosis of acatalasia is based on determining reduced catalase activity in erythrocytes. Treatment consists of prescribing antioxidants, vitamins, and drugs that improve microcirculation. The prognosis with adequate therapy is generally favorable.

Acatalasia is a rare hereditary disease that is characterized by impaired function of immune system cells. This occurs due to a mutation in the TACC3 gene, which is responsible for the synthesis of a protein necessary for the functioning of these cells.

Acatalasidemia manifests itself in different forms. In most cases, it is accompanied by immunodeficiency, low levels of white blood cells and platelets, impaired immunity, frequent infections and skin diseases. Symptoms may include diarrhea, vomiting, frequent colds and other infectious diseases. But acatalia does not always cause the above symptoms. Sometimes it is asymptomatic, in which case the diagnosis is made only after the activity of the gene responsible for its occurrence has been detected.

The main method for diagnosing acatalase is a blood test, in which a reduced content of immune cells is observed. To confirm the diagnosis, additional studies may be required, such as bone marrow or lymph node biopsy, magnetic resonance imaging