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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
  • ICD-11: 5C57.1
  • OMIM: 614097
  • UMLS: C0268419
  • MeSH: D020642
  • GARD: 363
  • MedDRA: 10086141

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021) Deutsch (2006) Italiano (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.