Acatalasemia: Severe deficiency of catalase with mouth ulcers

Acatalasemia is a rare condition in which a patient has a severe deficiency of the enzyme catalase. Changes in the CAT gene cause the metabolic disorder. The metabolic disease usually does not cause symptoms, but occasionally patients suffer from mouth ulcers and soft tissue death due to oxygen deprivation. Good oral hygiene and dental treatments can be used to alleviate the symptoms, but a cure for this metabolic disorder is not possible. Finally, patients with acatalasemia may be more likely to suffer from some conditions.

  • Synonyms of acatalasemia
  • Epidemiology of metabolic disease
  • Causes of severe deficiency of enzyme catalase
  • Gene mutations
  • Heredity
  • Symptoms: Mouth ulcers and gangrene
  • Diagnosis and examinations
  • Therapy
  • Complications of metabolic disorder

 

Synonyms of acatalasemia

Acatalasemia is also known as acatalasia and catalase deficiency.

Epidemiology of metabolic disease

Acatalasemia is a rare disease. Approximately 1 in 12,500 patients in Japan, 1 in 20,000 patients in Hungary and 1 in 25,000 patients in Switzerland suffer from the disease. The prevalence of acatalasemia in other populations is unknown as of September 2020. The estimated frequency is 1 in 31,250 people in the general population.

Causes of severe deficiency of enzyme catalase

Gene mutations

Acatalasemia is primarily the result of mutations (alterations) in the CAT gene. This gene is necessary for the production of the enzyme catalase, which is responsible for breaking down hydrogen peroxide molecules into oxygen and water. The production of hydrogen peroxide takes place through chemical reactions in cells. Low levels of hydrogen peroxide molecules are needed in several chemical signaling pathways, but high levels are toxic to cells. If catalase does not break down the hydrogen peroxide, additional reactions convert it to reactive oxygen (kind of compounds) and damage DNA, proteins and cell membranes.
The mutations in the CAT gene cause a deficiency of cat alase, causing hydrogen peroxide to build up in certain cells to toxic levels. For example, hydrogen peroxide produced by bacteria in the mouth accumulates in and damages soft tissues. This then leads to mouth ulcers and gangrene. A buildup of hydrogen peroxide sometimes also damages the beta cells of the pancreas. The pancreas releases the hormone insulin, which is necessary to regulate blood sugar levels. Defective beta cells are the basis of the increased risk of diabetes mellitus type 2 in patients with acatalasemia. It is not known in September 2020 why some patients with the disease experience no symptoms due to the deficiency of catalase.
A mutation in the CAT gene is not always present; the cause is unknown in these cases. Other genetic and environmental factors may also be involved in the pathogenesis of acatalasemia.

Heredity

Acatalasemia has an autosomal recessive inheritance pattern, so the two copies of the CAT gene must have changes present in each cell. The activity of catalase then reduces to less than ten percent of normal activity. With only a gene mutation in one of the two copies, the activity of catalase is reduced by approximately half. This reduction in catalase activity is known as hypocatalasemia. In most cases, hypocatalasemia, like acatalasemia, usually causes no signs.

Symptoms: Mouth ulcers and gangrene

Patients with acatasemia have very low levels of the enzyme catalase. Many patients with acatalasemia have no symptoms and are diagnosed based on family members who also suffer from the disease. Some possible signs include mouth ulcers that led to soft tissue death (gangrene) due to lack of oxygen. When mouth ulcers and gangrene occur in acatalasemia, it is called Takahara disease. However, these complications rarely manifest themselves because patients generally strive to maintain good oral hygiene. Finally, a patient may suffer from bleeding gums and gingivitis.

Diagnosis and examinations

The doctor first needs a thorough family history of the suspected patient. He also carries out a thorough examination of the mouth. Confirmation of the serious deficiency of the enzyme catalase is done through various genetic studies.

Therapy

As of September 2020, there is no cure for acatalasemia. Improved oral hygiene is needed. Sometimes medical treatment by the dentist is necessary.

Complications of metabolic disorder

Patients with acatalasemia have an increased risk of developing type 2 diabetes mellitus, the most common form of diabetes. Patients with the disease often also develop diabetes mellitus at a younger age (thirty to forty years). The disease also increases the risk of atherosclerosis (hardening of the arteries).

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