Short answer · Medically reviewed summary · Last updated: 2023-07-13
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.
What is the prevalence of Acatalasemia?
Prevalence of Acatalasemia: how many people are affected worldwide, differences by sex and region, with sources.
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.
