A metabolic disorder involving a mutation in CAT gene and characterized by low levels of catalase in blood
Acatalasia is a metabolic disorder involving a dysfunctional peroxisome. Thus, it is one of the many types of peroxisomal disorder. Acatalasia is characterized by low levels of catalase in blood. This is due to a mutation in the CAT gene that normally codes for catalase. Catalase is the enzyme that plays a role in breaking down hydrogen peroxide into water and oxygen. Without adequate levels of catalase, hydrogen peroxide may be converted into reactive oxygen species, which can damage biomolecules such as proteins and DNA.
Nevertheless, acatalasia is usually benign since there are no health problems associated with it, apart from the increased likelihood of oral sores and gangrene (death of soft tissue), which in this case is referred to as Takahara’s disease. It is named after a Japanese otolaryngologist, Shigeo Takahara. He was the first to report the disease in 1948.
Acatalasia is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms.
- Takahara’s disease