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Acatalasemia
- 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.
Synonyms
Catalase deficiency
Incidence
How common is Acatalasemia?
1-9 /100000
Inheritance
Autosomal recessive
Age of Onset
All ages
What are the symptoms of Acatalasemia?
Very Common Symptoms
Reduced catalase activity
Common Symptoms
Oral ulcer
Occasional Symptoms
- Gangrene
- Gingival bleeding
- Gingivitis
- Microcytic anemia
- Old-aged sensorineural hearing impairment
- Severe periodontitis
- Type II diabetes mellitus
Rare Symptoms
- Arteriosclerosis
- Neoplasm of the larynx
- Pain
- Parkinsonism
- Premature loss of permanent teeth
- Schizophrenia
- Type I diabetes mellitus
- Vitiligo
