Acatalasia

Acatalasia: causes, symptoms and treatment

Acatalasia is a rare genetic disease characterized by the absence or low levels of catalase in the blood. Catalase is an enzyme that plays an important role in clearing the body of hydrogen peroxide, an oxidation product that can harm cells.

With acatalasia, the level of catalase in the blood decreases, which leads to an increase in the level of hydrogen peroxide. This can cause cell and tissue damage, which in turn can lead to serious health consequences.

Symptoms of acatalasia

Symptoms of acatalasia may include recurring infections, as well as gingivitis and ulceration of the oral mucosa. This disease may also cause increased levels of hydrogen peroxide in the blood and tissues, which can cause metabolic problems and damage to the nervous system.

Tahakara disease

Acatalasia is most common among Japanese people and is also known as Tahakara disease. This disease was first described by Japanese scientist Takashi Tahakara in 1948.

Tahakara disease often appears in childhood and can lead to serious complications such as delayed physical and mental development, impaired motor coordination, and even death.

Treatment of acatalasia

There is currently no specific treatment for acatalasia. However, there are methods that can help improve the quality of life of patients.

It is important to avoid factors that can worsen symptoms, such as smoking, stress, and certain foods that contain high levels of hydrogen peroxide.

It is also recommended to regularly check your blood catalase levels and take catalase supplements, which can help compensate for enzyme deficiency.

Finally

Acatalasia is a rare genetic disorder that can cause serious health consequences. Although there is currently no specific treatment, regular monitoring, avoiding factors that may aggravate symptoms, and taking catalase supplements can help improve patients' quality of life.

Acatalasia is a congenital absence or low level of blood catalase, leading to frequent infections and ulceration of the gums (gingivitis) and oral mucosa.

Catalase is an enzyme that breaks down hydrogen peroxide (H2O2) into water and oxygen in the body. In acatalasia, the activity of this enzyme is greatly reduced or absent. This causes toxic hydrogen peroxide to accumulate in tissues, leading to oxidative stress and tissue damage.

The main symptoms of acatalasia:

1. Frequent infections of the gums, tongue, lips and oral mucosa.

2. Inflammation and bleeding of the gums (gingivitis).

3. Ulcerations in the mouth.

4. Increased sensitivity to infections.

This disease is most common among the Japanese, where it is called Tahakara disease. Acatalasia is usually diagnosed in childhood by testing the level of catalase in the blood.

Treatment includes taking antibiotics for infections, using antiseptic mouth rinses, and taking antioxidants to reduce oxidative stress. In some cases, a bone marrow transplant is performed. The prognosis for acatalasia is generally favorable with adequate treatment.

**Acatalasia** (Acatalasie from German Aceton aus Kat meaning “absence”) is a congenital autosomal recessive hereditary protein storage disease caused by a mutation in the catalase gene located on chromosome 8.

Acatalasia is one of the forms of hereditary metabolic pathology. According to the severity of the course, it is customary to distinguish mild (juvenile), moderate and severe forms, and according to the nature of clinical manifestations - three forms: acute, chronic recurrent (with the presence of gingivitis) and atrophic.

Takhakar's disease (from the French tachyacalpinesy - rapidly developing acetonemic vomiting) is inherited in an autosomal recessive manner. The disease is rare among Europeans and North Africans, but is quite common in the descendants of Asian immigrants. In the Japanese, the disease is detected with a frequency of about 8%; in people of the Caucasian race it is extremely rare (1 case in 65,000