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Acatalasemia

What is Acatalasemia?

Patients who have Acatalasemia or Acatalasia have very low levels of catalase. Catalase is found in almost all living organisms, it is an enzyme responsible for breaking down hydrogen peroxide to water and oxygen. The disorder is very rare in the general population with an estimated prevalence of 1 in 31,250, according to the Genetic and Rare Diseases Information Center (GARD).

What are the symptoms of Acatalasemia?

For many patients, he only way they’ve been diagnosed is because of family history. Many times acatalasemia is asymptomatic. When symptoms do occur they may include the following:
  • Open sores inside the mouth
  • Death of soft tissue (gangrene)i
  • Increased risk of developing type 2 diabetes

What causes Acatalasemia?

Autosomal recessive inheritance. Mutations in the CAT gene can cause acatalasemia.

How is Acatalasemia diagnosed?

Tests are used to measure Catalase activity in read blood cells.

What are the treatments for Acatalasemia?

The most serious of the effects of Acatalesimia is oral gangrene. That is progressive and demands immediate medical attention by the proper specialist. In general, good oral hygiene is critical for these patients and oral infections should receive prompt attention and treatment.

Where can I find out more about Acatalasemia?

Acatalasemia Articles

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