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Acatalasemia

Orpha number ORPHA926
Synonym(s) Catalase deficiency
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD-10
  • E80.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 267454002

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.


Last update: June 2006

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