Living with Acatalasia
An inherited condition with very low levels of the enzyme catalase; many people have no problems, but some get mouth ulcers.
Understanding Acatalasia
Many people never have health problems and are diagnosed because family members are affected. Some early cases had mouth ulcers that led to tissue death (gangrene), known as Takahara disease. This is rarely seen now, probably because of better oral hygiene. People with acatalasemia may have a higher chance of type 2 diabetes, often starting in their thirties or forties. GARD lists onset as any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists mouth ulcers as the most common:
- Mouth ulcers
- Bleeding or inflamed gums
- Early loss of adult teeth
- Higher chance of type 2 diabetes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in CAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CAT gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acatalasemia; acatalasemia, hungarian type; catalase deficiency; deficiency of catalase; takahara disease
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acatalasia.
Explore research for Acatalasia
Explore actively recruiting Acatalasia studies with HealthSpark.
Find actively recruiting studies for Acatalasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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