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Disease found:Acatalasemia
Current as of:October 8, 2024
Disease Overview:Inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide [more info]
Signs and Symptoms:Can be asymptomatic, symptoms begin at any age. If symptomatic: oral ulcers, gangrene, gingival bleeding, gingivitis, microcytic anemia, periodontitis, associated with higher risk of Diabetes [more info]
Diagnosis:Genetic testing for mutations in the CAT gene +/- lab test for low Catalase levels [more info]
Treatment:Supportive treatment, prevention of mouth ulcers and gingivitis [more info]
Clinical Management:Specialist referral and supportive treatment [more info]
Referral: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:None are recruiting, but can sign up to be notified when one becomes available

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