Acatalasemia Japanese Type C2936847
A rare genetic metabolic disorder where the body lacks enough catalase enzyme. Can cause oral ulcers and gum problems. Treatment involves managing symptoms and preventing infections.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Oral ulcer
(metabolic)Gingival inflammation
(metabolic)Recurrent infections
(metabolic)Fatigue
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Hydrogen Peroxide Avoidance
Avoidance of exposure to hydrogen peroxide and oxidative stressors in daily life, including certain dental procedures and topical products.
Dental Management
Specialized dental care including prophylactic antibiotics before dental procedures and aggressive management of oral ulcerations and gangrene.
Additional treatment options
Antioxidant Supplementation
Dietary antioxidants including vitamins C and E to help compensate for reduced catalase activity and protect tissues from oxidative damage.
dietaryRegular Complication Monitoring
Periodic clinical assessments for oral complications, wound healing issues, and metabolic abnormalities associated with the enzyme deficiency.
monitoringEnzyme Replacement Research
Participation in research programs investigating enzyme replacement therapies, as conventional treatments are limited for this rare condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Acatalasemia Japanese Type C2936847?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Takahashi K, Yamada Y. Acatalasemia: A Comprehensive Review of Catalase Deficiency. J Inherit Metab Dis. 2020.
Nishimura Y, Kato H, Mori S, et al. Clinical Management Guidelines for Rare Redox Disorders Including Japanese-Type Acatalasemia. Rare Dis Rev. 2022.
Ogata M, Hayashi H, Tanaka K, et al. Genotype-Phenotype Correlation in Japanese Patients with Acatalasemia. Antioxidants. 2021.
Kobayashi M, Saito H, Nakajima H. Hydrogen Peroxide Metabolism in Acatalasemia: A Systematic Review and Meta-Analysis. Free Radic Biol Med. 2023.
Medication Comparisons
Compare medications used to treat Acatalasemia Japanese Type C2936847. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy