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Acatalasemia

Disease definition

A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.

ORPHA:926

Classification level: Disorder
  • Synonym(s):
    • Catalase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E80.3
  • OMIM: 614097
  • UMLS: C0268419  C2931868
  • MeSH: -
  • GARD: 363
  • MedDRA: -
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