Acatalasemia
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Summary
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. *Author: Orphanet (June 2006)*.
Update : 15/04/2007
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