Acatalasemia

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

Disease overview

Inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide

Common symptoms

Can be asymptomaticsymptoms begin at any age. If symptomatic: oral ulcersgangrenegingival bleedinggingivitismicrocytic anemiaperiodontitisassociated with higher risk of Diabetes

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing for mutations in the CAT gene +/

  • Recommendation 2

    lab test for low Catalase levels

HOW TO TEST

  • Recommendation 1

    Genetic testing for mutations in the CAT gene +/

  • Recommendation 2

    lab test for low Catalase levels

TREATMENT

  • Recommendation 1

    Supportive treatment, prevention of mouth ulcers and gingivitis

PRIMARY CARE

  • Recommendation 1

    Specialist referral and supportive treatment

FURTHER SUPPORT

  • Recommendation 1

    No specific physicians specialize in this condition, often managed by Internal Medicine/Pediatrics/Medical Genetics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

CLINICAL TRIALS

Sources

No data available

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