Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.
Mutations in the CAT gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes.
More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown.
Acatalasemia has an autosomal recessive pattern of inheritance, which means both copies of the CAT gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal.
Laszlo Goth is in Debrecen, Hungary. Goth is rated as an Elite expert by MediFind in the treatment of Acatalasemia. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Acatalasemia, Methemoglobinemia, Hemolysis, and Beta Thalassemia.
Noriyoshi Masuoka is in Okayama, Japan. Masuoka is rated as a Distinguished expert by MediFind in the treatment of Acatalasemia. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Acatalasemia, Hemolysis, and Gout.
Keiki Ogino is in Nankoku, Japan. Ogino is rated as a Distinguished expert by MediFind in the treatment of Acatalasemia. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Acatalasemia, Aluminosis, Asthma, and Abdominal Obesity Metabolic Syndrome.
Published Date:updated Last, September
Published By: National Institutes of Health