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PubMed This is a summary of 7 peer-reviewed journal articles Updated
Genetics

Symptoms and Clinical Signs

At a Glance

Acatalasemia is a rare genetic enzyme deficiency that primarily causes severe oral health issues, including deep mouth ulcers, gangrenous gum disease, and premature tooth loss. It also increases systemic risks like type 2 diabetes and can cause false-high HbA1c blood test results.

The symptoms of acatalasemia can vary significantly from one person to another. While some individuals may show no outward signs for years, others develop specific issues that require careful management. Understanding these manifestations can help you catch potential problems early and work more effectively with the medical team. Symptoms can appear in childhood, often as teeth begin to erupt, but can also emerge or persist in adulthood.

The Vulnerable Mouth

Historically, the most recognizable signs of acatalasemia occur in the mouth. This is because certain bacteria naturally present in the mouth produce hydrogen peroxide [1]. Without enough catalase to neutralize this peroxide, it builds up and damages the delicate tissues of the gums and oral cavity over time [1][2].

  • Gangrenous Oral Ulcerations: These are painful, deep sores in the mouth that can lead to necrosis (tissue death) if left unmanaged [1][3].
  • Gangrenous Periodontitis: This is a severe form of gum disease. The gums may become inflamed, turn dark or blackish, and pull away from the teeth [1].
  • Premature Tooth Loss: Because the surrounding gum and bone tissue can be damaged by oxidative stress, both primary (baby) and permanent teeth may become loose and fall out much earlier than expected [1].

Systemic Risks and Long-Term Health

While the mouth is often the first place symptoms appear, the lack of catalase affects the entire body’s ability to manage oxidative stress. Over time, this “wear and tear” on cells can increase the risk for certain systemic conditions [4][2].

  • Metabolic Health: Catalase deficiency can interfere with how the body handles sugar and inflammation. This increases the susceptibility to Type 2 Diabetes and hypertension (high blood pressure) [5][4].
  • Blood and Iron: Some patients may develop microcytic anemia, a condition where red blood cells are smaller than normal and cannot carry oxygen as effectively [4][6].
  • Skin Changes: There is an associated risk of vitiligo, a condition where the skin loses its pigment (color) in patches [4].

Understanding the “Dose” of Deficiency

The severity of symptoms often depends on whether a person has one or two mutated copies of the CAT gene.

Feature Acatalasemia (Homozygous) Hypocatalasemia (Heterozygous)
Gene Copies Two mutated copies (Biallelic) [1] One mutated copy [7]
Enzyme Activity Severe deficiency or total absence [1] Roughly 50% of normal activity [5]
Oral Symptoms High risk for ulcers and tooth loss [1] Generally no oral symptoms [7]
Systemic Risk Higher risk for associated conditions [4] Lower risk, but may still be vulnerable [5]

A Note on Diagnostic Accuracy

It is extremely important to know that catalase deficiency can interfere with common medical tests. Specifically, it can cause false-high HbA1c levels (a measure of average blood sugar) [7]. This happens because certain lab tests use enzymes that are disrupted by the extra hydrogen peroxide in the blood sample, potentially leading to an incorrect diagnosis of diabetes when none exists [7]. Always inform your doctor of an acatalasemia diagnosis before undergoing blood sugar testing.

Common questions in this guide

What are the first signs of acatalasemia?
The most common early signs occur in the mouth, including painful, deep sores and severe gum inflammation. This happens because the body cannot neutralize the hydrogen peroxide naturally produced by mouth bacteria.
Can acatalasemia cause my teeth to fall out?
Yes. Severe gum disease and tissue damage from oxidative stress can lead to premature tooth loss in people with acatalasemia. Both baby teeth and permanent teeth can be affected by this damage.
Does having acatalasemia increase the risk of other health conditions?
Over time, the lack of catalase can increase oxidative stress throughout the body. This may raise your risk for developing type 2 diabetes, high blood pressure, microcytic anemia, and vitiligo.
What is the difference between acatalasemia and hypocatalasemia?
Acatalasemia occurs when you have two mutated copies of the CAT gene, resulting in a severe enzyme deficiency and noticeable symptoms. Hypocatalasemia means you have only one mutated copy, leaving you with about half the normal enzyme activity and usually no oral symptoms.
Why do people with acatalasemia get false-high HbA1c results?
Catalase deficiency can interfere with how certain blood sugar lab tests process the sample. The extra hydrogen peroxide in the blood can disrupt the test's enzymes, potentially leading to an incorrect diagnosis of diabetes.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Given the risk of gangrenous periodontitis, how often should I or my child see a dentist specializing in rare conditions?
  2. 2.How should we screen for the associated risks of type 2 diabetes or hypertension over time?
  3. 3.Is there an increased risk for anemia, and should we be monitoring iron or hemoglobin levels regularly?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (7)
  1. 1

    A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

    Hassib NF, Mehrez M, Abouzaid MR, et al.

    Archives of oral biology 2024; (167()):106054 doi:10.1016/j.archoralbio.2024.106054.

    PMID: 39079473
  2. 2

    Compromised glutathione synthesis results in high susceptibility to acetaminophen hepatotoxicity in acatalasemic mice.

    Ogino N, Nagaoka K, Tomizuka K, et al.

    Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 2021; (156()):112509 doi:10.1016/j.fct.2021.112509.

    PMID: 34390818
  3. 3

    [Bicentennial of catalase research, 1818-2018].

    Góth L

    Orvosi hetilap 2018; (159(24)):959-964 doi:10.1556/650.2018.31096.

    PMID: 29888660
  4. 4

    Role of Catalase in Oxidative Stress- and Age-Associated Degenerative Diseases.

    Nandi A, Yan LJ, Jana CK, Das N

    Oxidative medicine and cellular longevity 2019; (2019()):9613090 doi:10.1155/2019/9613090.

    PMID: 31827713
  5. 5

    Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia.

    Nagy T, Paszti E, Kaplar M, et al.

    Mutation research 2015; (772()):10-4.

    PMID: 25772105
  6. 6

    Redox-dependent catalase mimetic cerium oxide-based nanozyme protect human hepatic cells from 3-AT induced acatalasemia.

    Singh R, Singh S

    Colloids and surfaces. B, Biointerfaces 2019; (175()):625-635 doi:10.1016/j.colsurfb.2018.12.042.

    PMID: 30583218
  7. 7

    Analysis of five cases showing false-high Hemoglobin A1c due to reduced catalase activity.

    Hara K, Ujiie A, Suzuki S, et al.

    Endocrine journal 2024; (71(1)):39-44 doi:10.1507/endocrj.EJ23-0212.

    PMID: 38030260

This page provides educational information about the symptoms and systemic risks of acatalasemia. Always consult your doctor or dentist for proper diagnosis and medical monitoring.

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