ORPHA:926
Acatalasemia
Also called Catalase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
About this disease
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.
Definition from Orphanet.
Common signs
- Reduced catalase activity
- Oral ulcer
- Severe periodontitis
- Gingival bleeding
- Gingivitis
- Microcytic anemia
Learn more
Source: Orphanet (Orphadata), ORPHA:926. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.