What is the prevalence of Acatalasemia?
How many people does Acatalasemia affect? Does it have the same prevalence in men and women? And in the different countries?
Acatalasemia is a rare genetic disorder characterized by the absence or reduced levels of the enzyme catalase, which plays a crucial role in breaking down hydrogen peroxide in the body. This condition is inherited in an autosomal recessive manner, meaning both parents must carry the mutated gene for a child to be affected. The prevalence of acatalasemia varies among different populations, with higher frequencies reported in Japan and Hungary. However, due to its rarity, the exact prevalence is not well-established. Individuals with acatalasemia may experience oral ulcerations, gum infections, and other symptoms related to impaired hydrogen peroxide metabolism.
Acatalasemia is a rare genetic disorder characterized by the absence or significantly reduced levels of the enzyme catalase in red blood cells. Catalase plays a crucial role in breaking down hydrogen peroxide, a harmful byproduct of metabolism, into water and oxygen. Without sufficient catalase, hydrogen peroxide accumulates and can cause oxidative damage to cells and tissues.
The prevalence of acatalasemia varies among different populations. It is most commonly found in individuals of Japanese, Korean, and Hungarian descent, with a higher incidence reported in these ethnic groups. Studies suggest that the prevalence of acatalasemia in Japan is approximately 1 in 40,000 individuals, making it relatively more common in this population.
Acatalasemia is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. As a rare condition, acatalasemia often goes undiagnosed or misdiagnosed, as its symptoms can be mild or absent. Genetic testing is necessary to confirm the diagnosis.
While acatalasemia is a rare disorder, understanding its prevalence is important for genetic counseling and identifying individuals at risk. Ongoing research aims to further explore the genetic and environmental factors contributing to the development of acatalasemia.
