acatalasia

Acatalasemia, also known as Acatalasia, is a rare metabolic disorder characterized by a total or near-total loss of catalase activity in erythrocytes (red blood cells).

• This condition is caused by mutations in the CAT gene, which provides instructions for making the enzyme catalase [5][8].
• As a result, the activity of catalase is reduced to less than 10 percent of normal when both copies of the gene are altered [1].
• When only one copy of the gene has a mutation, the activity of catalase is reduced by approximately half [1].

Symptoms associated with Acatalasemia:

• Arteriosclerosis (hardening of arteries)
• Gangrene (death of body tissue due to lack of blood flow or infection) [2]
• Recurrent infections of the gums and associated oral structures in about half of affected persons [13]

Types of Acatalasemia:

• Takahara disease, a form of acatalasemia that originates from ulcerating oral gangrenes [3][4][14]
• Hypocatalasemia or hypocatalasia, a condition characterized by half-normal levels of catalase in heterozygotes (people with one mutated copy of the CAT gene) [11]

Inheritance pattern:

• Acatalasemia has an autosomal recessive pattern of inheritance, meaning that both copies of the CAT gene in each cell must have mutations for the condition to manifest [1].

Signs and Symptoms of Acatalasia

Acatalasia, also known as acatalasemia or catalase deficiency disorder, is a congenital disorder caused by mutations in the CAT gene. The signs and symptoms of this condition can vary from person to person, but here are some common manifestations:

• Recurrent infections: Individuals with acatalasia may experience recurrent infections, particularly of the gums and associated oral structures.
• Oral ulcers: Deep necrotic periodontal or tonsillar ulcerations with surrounding inflammation can occur, especially after the eruption of deciduous teeth.
• Skin disorders: Common manifestations include skin disorders, which can be a result of the body's inability to protect cells from oxidative damage due to catalase deficiency.
• Gangrenous lesions: In rare cases, gangrenous lesions can develop, particularly in individuals who have severe symptoms and complications.
• Asymptomatic: Many individuals with acatalasia may show no symptoms and never experience any related health problems. The only reason they are diagnosed is because they have affected family members.

Age of Onset

Symptoms of acatalasia can start to appear at any time in life, but the age of onset differs between individuals. Some people may experience symptoms during childhood, while others may not show signs until adulthood.

Prognosis

The prognosis of acatalasemia is dependent on the severity of the signs and symptoms and associated complications. Individuals with mild conditions have a better prognosis than those with severe symptoms and complications.

References:

• [3] The disorder is relatively benign, although it causes an increased incidence of oral ulcers, and can under rare circumstances lead to gangrene.
• [4] Symptoms primarily affect children.
• [8] Common manifestations include recurrent infections, oral ulcers, and skin disorders. Because catalase is vital for protecting cells from oxidative damage,
• [13] symptoms, which consist of recurrent infections of the gums and associated oral structures that can progress to gangrenous lesions.
• [14] recurring infections of the gums and associated oral structures that can progress to gangrenous lesions.
• [15] The prognosis of Acatalasemia is dependent upon the severity of the signs and symptoms and associated complications, if any;

Diagnostic Tests for Acatalasia

Acatalasia, also known as acatalesemia or Takahara's disease, is a rare autosomal recessive hereditary disorder caused by mutations in the gene responsible for catalase enzyme formation. Diagnosing this condition can be challenging due to its rarity and similarity to other diseases.

Simple Test for Catalase Enzyme Activity

A simple test can be performed to determine the lack of catalase enzyme activity, which is a hallmark of acatalasia. This test involves using a swab with hydrogen peroxide on the patient's blood, which turns brown and stops producing oxygen if catalase levels are low.

Molecular Genetic Testing

Molecular genetic testing, such as sequence analysis of the entire coding region or next-generation sequencing (NGS), can confirm the diagnosis of acatalasia. This type of testing is offered by some laboratories, including LifeLabs Genetics, which provides clinical molecular genetics tests for acatalasia and other conditions.

Other Diagnostic Tests

While not specific to acatalasia, other diagnostic tests may be used to rule out other conditions that present with similar symptoms. These include:

• Physical examination
• Full medical history investigation
• Investigation of symptoms

It's essential to note that a diagnosis usually starts with a full medical history, investigation of symptoms, and a physical examination. Molecular genetic testing can confirm the diagnosis.

References

• [4] Acatalesemia, also known as acatalasia or Takahara's disease, is a rare autosomal recessive hereditary disorder that is caused due to mutations in the gene responsible for the formation of the enzyme: catalase.
• [5] Clinical Molecular Genetics test for Acatalasia and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics.
• [7] Assays of the catalase enzyme reveal low levels. Clinical characteristics, pathologic laboratory test results, age, and oxidative stress-related symptoms are used to diagnose acatalasia.

Note: The numbers in square brackets refer to the context numbers provided for citation purposes.

Based on the search results, it appears that there is currently no cure for Acatalasemia, but treatment options are available to manage its symptoms.

• Periodontal (gum disease) treatments are used to minimize tissue damage and improve oral hygiene, as the main symptoms of Acatalasemia are related to oral ulcers and gangrene [5][9].
• Antimicrobial therapy is also a part of the treatment plan for Acatalasemia [7].

It's worth noting that while these treatments can help manage the symptoms of Acatalasemia, there is currently no cure for the condition.

References:

[5] Periodontal therapies are usually known to minimise tissue damage and improve oral hygiene since the key symptoms of acatalasemia are related to oral ulcers and gangrene. [7] Nov 25, 2024 — Treatment includes surgery, tooth extraction, and antimicrobial therapy. [9] There is currently no treatment for acatalasemia. Periodontal therapies are usually known to minimise tissue damage and improve oral hygiene since the key symptoms of acatalasemia are related to oral ulcers and gangrene.

Differential Diagnosis of Acatalasia

Acatalasia, also known as acatalasemia, is a rare metabolic disorder characterized by the total or near-total absence of catalase activity in erythrocytes. When considering the differential diagnosis of acatalasia, several conditions should be taken into account.

• Oral Ulcerations: Acatalasia should be considered in the differential diagnosis of children with oral ulcerations [3][4]. The patient's blood turns brown upon contact with hydrogen peroxide and lacks the generation of oxygen (bubbling) [10].
• Congenital Metabolic Disorders: Acatalasia is a congenital metabolic disorder that affects the breakdown of hydrogen peroxide in the body. It should be considered in the differential diagnosis of conditions such as aphthous ulcers, where the patient's blood shows low catalase activity [4][5].
• Other Conditions: Other conditions that may present with similar symptoms to acatalasia include esophageal motility disorders, such as achalasia [11]. However, these conditions are distinct from acatalasia and require separate diagnostic approaches.

Key Diagnostic Features

To diagnose acatalasia, the following key features should be considered:

• Low Catalase Activity: The patient's blood shows low catalase activity, which can be confirmed through enzyme assays.
• Brown Blood Reaction: When the patient's blood comes into contact with hydrogen peroxide, it turns brown and lacks the generation of oxygen (bubbling).
• Oral Ulcerations: Acatalasia is often associated with oral ulcerations in children.

References

[3] Should be considered in the differential diagnosis of children with oral ulcerations. The patient's blood turns brown upon contact with hydrogen peroxide and ... [4] The list of important differential diagnoses of aphthous ulcers in the box on page 667 had one important omission: a congenital metabolic disorder, acatalasia. [10] Catalase activity assays show low levels. [11] EPIDEMIOLOGY AND DIAGNOSIS. Achalasia is an esophageal motility disorder with reported global incidence and prevalence ranging from 0.03 to 1.63 per 100,000 persons per year and 1.8 to 12.6 per 100,000 persons per year, respectively (1,2).