Acatalasemia

Synonyms

2

Overview

Acatalasemia is a congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is very rare in the general population with an estimated prevalence of 1 in 31250. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Transmission is autosomal recessive. It is often characterized by infection of the gums.

Symptoms

• Asymptomatic
• Recurrent oral infection
• Mouth ulcers
• Mouth gangrene

Resources

• NIH