Acatalasia

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Acatalasia is a rare autosomal recessive genetic disorder characterized by the absence or very low levels of the enzyme catalase. This enzyme is crucial for the breakdown of hydrogen peroxide into water and oxygen. The deficiency of catalase leads to the accumulation of hydrogen peroxide, which can cause damage to cells and tissues.

Signs and Symptoms

Individuals with acatalasia may be asymptomatic or present with a range of symptoms. Common symptoms include:

• Oral ulcers
• Gangrene of the gums
• Increased susceptibility to infections
• Delayed wound healing

Genetics

Acatalasia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disorder. The gene responsible for acatalasia is the CAT gene, which provides instructions for making the enzyme catalase.

Diagnosis

Diagnosis of acatalasia is typically made through:

• Blood tests to measure catalase activity
• Genetic testing to identify mutations in the CAT gene

Treatment

There is no specific treatment for acatalasia. Management focuses on preventing and treating symptoms and complications. This may include:

• Good oral hygiene to prevent oral ulcers and infections
• Prompt treatment of infections with antibiotics
• Regular monitoring by healthcare professionals

Epidemiology

Acatalasia is an extremely rare disorder, with higher prevalence reported in certain populations, such as in Japan and Switzerland. The exact incidence and prevalence are not well-documented due to the rarity of the condition.

History

The disorder was first described in 1948 by Japanese scientist Takahara and is sometimes referred to as Takahara's disease.

See Also

• Catalase
• Genetic disorder
• Autosomal recessive
• Hydrogen peroxide

External Links

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