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Acatalasemia

Orpha number ORPHA926
Synonym(s) Catalase deficiency
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • E80.3
ICD-O -
OMIM
UMLS
  • C0268419
MeSH -
MedDRA -

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.


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