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.
Last update: June 2006