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| Disease found: | Acatalasemia |
| Current as of: | Thu Nov 21 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 |