Acatalasemia is a rare genetic disorder characterized by the absence or deficiency of the enzyme catalase in the body. This enzyme plays a crucial role in breaking down hydrogen peroxide, a harmful byproduct of metabolism, into water and oxygen. Without sufficient catalase, hydrogen peroxide can accumulate and cause oxidative damage to cells and tissues.
While the term "acatalasemia" is commonly used to describe this condition, there are also several synonyms that refer to the same disorder:
It is important to note that acatalasemia is a very rare condition, with only a few hundred cases reported worldwide. Symptoms of acatalasemia can vary but may include oral ulcerations, gum infections, and increased susceptibility to oxidative stress. Treatment mainly focuses on managing symptoms and preventing complications.