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A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.
Features include: Oral ulcer and Reduced circulating catalase activity.
CAT encodes catalase (527 aa). Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide. Highest expression in Adipose Subcutaneous (188.0 TPM) and Liver (181.2 TPM).
Acatalasia has been associated with mutations in the CAT gene on chromosome 11.
CAT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 1.3.
Genetic testing for CAT is available. Testing is considered supportive for diagnosis.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for acatalasia.
6 publications have been identified in PubMed for acatalasia. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Case Report / Case Series (17%).
Aprile N (2026). [PMID: 42072733](https://pubmed.ncbi.nlm.nih.gov/42072733/). *Biomolecules*. [Review / Meta-Analysis]
Tasia W (2025). [PMID: 39942733](https://pubmed.ncbi.nlm.nih.gov/39942733/). *Molecules (Basel, Switzerland)*. [Basic Science / Preclinical]
Hassib NF (2024). [PMID: 39079473](https://pubmed.ncbi.nlm.nih.gov/39079473/). *Archives of oral biology*. [Case Report / Case Series]
Lane HY (2024). [PMID: 39384087](https://pubmed.ncbi.nlm.nih.gov/39384087/). *Pharmacology, biochemistry, and behavior*. [Clinical Trial Publication]
Li H (2024). [PMID: 39137628](https://pubmed.ncbi.nlm.nih.gov/39137628/). *International immunopharmacology*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acatalasia