Acatalasia (acatalasemia, catalase deficiency) is a rare genetic condition displaying a pattern of autosomal recessive inheritance. The catalase enzyme catalyzes the breakdown of hydrogen peroxide, a dangerous compound with oxidizing potential, into water and oxygen. Low levels of enzyme activity may lead to tissue damage under some conditions such as an infection by certain bacteria because a defense against the oxidative effects of hydrogen peroxide is compromised. However, other enzymes also function in the decomposition of hydrogen peroxide, which helps to ameliorate the effect of low catalase levels. Another reason for the condition being benign is that absence of catalase is rarely complete, and some residual activity can usually be found.

A variety of mutations may be responsible for the enzyme deficiency. As a result, the nature of the defect in the protein and the clinical manifestations vary. Until now, three main types of acatalasia have been distinguished (there are relevant subtypes, too). The first is the Japanese type, which is also the type that was first described. The condition of acatalasia was originally identified when a patient with mouth sores underwent surgery and on rinsing the wounds with hydrogen peroxide no bubbles were observed, indicating the absence of catalase activity [1]. The Japanese type of acatalasia, also called Takahara disease, is often characterized by mouth sores and gangrenes, although the incidence of oral problems is decreasing as oral care keeps improving. The second type was identified in Switzerland [2]. People having this condition are often free of symptoms. The third type of acatalasia, described in Hungary, is variable and is frequently associated with type II diabetes [3].

In addition to diabetes mellitus, atherosclerosis, Wilms tumor, and aniridia can be associated with acatalasia [4]. In patients with acatalasia, the high levels of hydrogen peroxide may lead to methemoglobinemia. This may be a particular concern for acatalasemic patients undergoing uric acid oxidase treatment during chemotherapy because this can result in very high concentrations of hydrogen peroxide [5].

• Hemophilia A

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• Gangrene

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. [kmle.co.kr]

  Hereditary deficiency of catalase in the blood and tissues, often manifested by recurrent infection, ulceration, and gangrene of the gums and related oral structures. [medical-dictionary.thefreedictionary.com]

  The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. [assignmentpoint.com]

  Though usually asymptomatic, a Syndrome of oral ulcerations and Gangrene may be present. 0 0 A rare autosomal recessive disorder resulting from the absence of CATALASE activity. [dictionary.university]

• Asymptomatic

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. [kmle.co.kr]

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. There are two variants: Japanese ( Takahara disease ) and Swiss (asymptomatic). [assignmentpoint.com]

  Though usually asymptomatic, a Syndrome of oral ulcerations and Gangrene may be present. 0 0 A rare autosomal recessive disorder resulting from the absence of CATALASE activity. [dictionary.university]

  Many patients with acatalasia are asymptomatic, while some develop mouth sores. Acatalasia (acatalasemia, catalase deficiency) is a rare genetic condition displaying a pattern of autosomal recessive inheritance. [symptoma.com]

• Anemia

  Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. [hungary.pure.elsevier.com]

  Human Heredity 177 Genetics and the Physician 195 Glossary 225 General Bibliography 235 Index 237 Urheberrecht Häufige Begriffe und Wortgruppen affected child affected individuals affected males affected persons alkaptonuria alleles Amer amino acids anemia [books.google.de]

  Excludes1 androgen insensitivity syndrome ( E34.5 -) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias attributable to enzyme disorders ( D55 .-) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase deficiency ( E29.1 [icd10coded.com]

  […] metabolic disorders Or: 2015/16 ICD-10-CM E88.9 Metabolic disorder, unspecified Approximate Synonyms Acatalasemia Acatalasia Acatalasia (Takahara's disease) Acute histiocytosis Adenosine deaminase overproduction Alpha-N-acetylgalactosaminidase deficiency Anemia [icd9data.com]

  P74 ) Endocrine, nutritional and metabolic diseases E70-E88 2019 ICD-10-CM Range E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias [icd10data.com]

• Hypertension

  Seite 299 - Relationship of acetyl transferase activity to antinuclear antibodies and toxic symptoms in hypertensive patients treated with hydralazine. ‎ [books.google.de]

  الصفحة 299 - Relationship of acetyl transferase activity to antinuclear antibodies and toxic symptoms in hypertensive patients treated with hydralazine. ‏ [books.google.com]

  Página 299 - Relationship of acetyl transferase activity to antinuclear antibodies and toxic symptoms in hypertensive patients treated with hydralazine. ‎ [books.google.es]

• Oral Ulcers

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. [kmle.co.kr]

  The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. [assignmentpoint.com]

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. 0 0 Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gums and related oral structures. [dictionary.university]

  Shigeo Takahara (1908–1994), a Japanese otolaryngologist first reported this new disease. [7] He had examined a patient with an oral ulcer. [wikiwand.com]

• Cheilitis

  Chapters: Acatalasia, Acquired dyskeratotic leukoplakia, Actinic cheilitis, Acute necrotizing ulcerative gingivitis, Allergic contact cheilitis, Angina bullosa haemorrhagica, Angular cheilitis, Aphthous ulcer, Behcet's disease, Black hairy tongue, Caviar [loot.co.za]

• Aniridia

  In addition to diabetes mellitus, atherosclerosis, Wilms tumor, and aniridia can be associated with acatalasia. In patients with acatalasia, the high levels of hydrogen peroxide may lead to methemoglobinemia. [symptoma.com]

  The signs and symptoms of Acatalasemia may include: Reduced catalase activity Oral ulcer In addition to diabetes mellitus, atherosclerosis, Wilms tumor, and aniridia can be associated with acatalasia. [assignmentpoint.com]

  There is evidence that catalase deficiency predisposes to skin damage by ultraviolet light. [ 7 ] There is a suggestion that catalase deficiency may be associated with aniridia (absence or defect of the iris), Wilms' tumour and mild-to-moderate mental [patient.info]

  There is a suggestion that catalase deficiency may be associated with aniridia (absence or defect of the iris), Wilms’ tumour and mild-to-moderate mental deficiency. Diagnosis: Catalase activity is usually measured in the erythrocytes. [medigoo.com]

• Ulcer

  Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present. [kmle.co.kr]

  Note the presence and location of any loose teeth and intraoral ulcerations. Perform direct laryngoscopy carefully to prevent accidental dislodgment of loose teeth and trauma to periodontal or tonsillar ulcers. [accessanesthesiology.mhmedical.com]

  A variety in Japan is characterized by oral ulcerations and gangrene and is known as takahara's disease. [medical-dictionary.thefreedictionary.com]

  Altenburg A, El-Haj N, Micheli C, Puttkammer M, Abdel-Naser MB, Zouboulis CC: The treatment of chronic recurrent oral aphthous ulcers. Dtsch Arztebl Int 2014; 111: 665–73 VOLLTEXT [aerzteblatt.de]

• Skin Ulcer

  The significance of the association of this karyotype with incurable skin ulcer is discussed. [semanticscholar.org]

Patient history and physical examination are indispensable for discovering the signs (mainly mouth sores or gangrenes) suggestive of acatalasia. Verification of the disease can be made by the simple test of exposing blood to hydrogen peroxide to observe the features of acatalasia, which are the absence of bubbles and the blood turning very quickly brown. Since many people with acatalasia are asymptomatic, they are often diagnosed through screening.

Full diagnosis requires the physicochemical characterization of the protein and the molecular genetic identification of the defect.

The enzyme activity can be measured in red blood cells. The molecular weight, isoelectric point, thermal stability, and catalytic constants of the catalase from patients with the Japanese acatalasia I condition are the same as those of the normal enzyme; however, the quantity of the protein is severely diminished [6]. In contrast, the Swiss-type enzyme – and some of the Hungarian types - have altered features, among them a decreased stability, showing that the protein is defective.

Molecular characterization of sequence alterations causing acatalasia shows heterogeneity among the patients. In the Japanese acatalasia I condition, sequencing of the gene and other studies demonstrated a splicing mutation [7]. Point mutations causing decreased activity of the enzyme have been observed in some Hungarian type conditions [8], whereas frameshift mutations were found in Hungarian and some Japanese patients [9] [10].

• Chlamydia

  Wortgruppen 1,4-Naphthoquinone acetylation acid action activity agents alkaloids amino antagonize anti-inflammatory antibiotics antipyretic antitumor aspirin bacterial Biochem Biol blood bradykinin bronchoconstriction cell Chem chemical Chemotherapy chlamydiae [books.google.de]

Altenburg A, El-Haj N, Micheli C, Puttkammer M, Abdel-Naser MB, Zouboulis CC: The treatment of chronic recurrent oral aphthous ulcers. Dtsch Arztebl Int 2014; 111: 665–73 VOLLTEXT [aerzteblatt.de]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Please always consult your primary doctor for final diagnosis and treatment. [xmri.com]

Treatment: The literature does not offer guidance on progressive oral gangrene, and patients should be referred to specialists urgently. However, prompt treatment of oral infections is advised. This should be followed by attention to oral hygiene. [medigoo.com]

Prognosis - Acatalasemia Not supplied. Treatment - Acatalasemia Not supplied. [checkorphan.org]

Except for potential loss of all teeth and parts of the alveolar bone, the overall prognosis in properly managed cases is good. Note the presence and location of any loose teeth and intraoral ulcerations. [accessanesthesiology.mhmedical.com]

Except for potential loss of all teeth and parts of the alveolar bone, the overall prognosis in properly managed cases is good. However, a fair number of patients, ... [accesspediatrics.mhmedical.com]

Treatment and prognosis Once these lesions become established and encapsulated then conservative management is rarely successful (e.g. compression bandages). [radiopaedia.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

Year introduced: 2000 PubMed search builder options Subheadings: analysis anatomy and histology blood chemically induced complications diagnosis diagnostic imaging drug therapy embryology enzymology epidemiology etiology genetics history immunology metabolism [ncbi.nlm.nih.gov]

(Etiology) The cause of development of Acatalasemia is unknown It is reportedly a genetic disorder that is inherited in an autosomal recessive manner Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies [dovemed.com]

Code for the international classification of diseases ICD-10: K05.2 K05.3 Causes Etiology. [toreents.ru]

Year introduced: 2000 PubMed search builder options Subheadings: analysis anatomy and histology blood chemically induced complications diagnosis diagnostic imaging drug therapy embryology enzymology epidemiology etiology genetics history immunology metabolism [ncbi.nlm.nih.gov]

(April 2017) Epidemiology In parts of Japan, this condition has been found in approximately 1.4% of people. [4] Researchers estimate that the condition occurs in 1 in 20,000 people in Hungary and Switzerland. [5] History In 1948, Dr. [wikiwand.com]

(April 2017) Epidemiology[edit] In parts of Japan, this condition has been found in approximately 1.4% of people.[4] Researchers estimate that the condition occurs in 1 in 20,000 people in Hungary and Switzerland.[5] History[edit] In 1948, Dr. [en.wikipedia.org]

Epidemiology Although this is said to be a rare condition, the gene frequency in Japan is given as 1.5%. [patient.info]

Pathophysiology Catalase is an extremely efficient enzyme located in red blood cells, mucosa, skin, muscles, bone marrow, appendix, and liver tissue. It transforms hydrogen peroxide into water and gaseous oxygen. [accesspediatrics.mhmedical.com]

A cuffed endotracheal tube and/or throat pack are recommended to prevent irrigation fluid used during debridement from entering the airway. [accessanesthesiology.mhmedical.com]

Prevention: Currently, Acatalasia may not be preventable, since it is a genetic disorder. It also focuses on the novel agents and methods that can be employed to prevent oxidative stress and associated diseases. [assignmentpoint.com]

How can Acatalasemia be Prevented? Currently, Acatalasemia may not be preventable, since it is a genetic disorder. [dovemed.com]

Prevention - Acatalasemia Not supplied. Diagnosis - Acatalasemia Not supplied. Prognosis - Acatalasemia Not supplied. Treatment - Acatalasemia Not supplied. [checkorphan.org]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

1. Takahara S, Miyamoto H. The progressive, necrotic dental maxillitis that was considered to be the cause of the lack of catalase in the blood. Okayama Igakkai zasshi. 1948;60(1-2):90.
2. Aebi H, Jeunet F, Richterich R, et al. Observations in two Swiss families with acatalasia. Enzymol Biol Clin (Basel). 1962-1963;2:1-22.
3. Góth L, Eaton JW. Hereditary catalase deficiencies and increased risk of diabetes. Lancet. 2000;356(9244):1820-1821.
4. Turleau C, de Grouchy J, Tournade MF, Gagnadoux MF, Junien C. Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genet. 1984;26(4):356-362.
5. Góth L, Bigler NW. Catalase deficiency may complicate urate oxidase (rasburicase) therapy. Free Radic Res. 2007;41(9):953-935.
6. Ogata M, Tomokuni K, Watanabe S, Osaki H, Sadamoto M. Residual catalase in the blood of Japanese acatalasemia. Tohoku J Exp Med. 1972;107(2):105-114.
7. Wen JK, Osumi T, Hashimoto T, Ogata M. Molecular analysis of human acatalasemia. Identification of a splicing mutation. J Mol Biol. 1990;211(2):383-393.
8. Góth L, Vitai M, Rass P, Sükei E, Páy A. Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus. Electrophoresis. 2005;26(9):1646-1649.
9. Góth L, Shemirani A, Kalmár T. A novel catalalase mutation (a 
GA Insertion) causes the Hungarian Type of Acatalasemia. Blood Cells Mol Dis. 2000;26(2):151-154.
10. Hirono A1, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S. A novel human catalase mutation (358 T-->del) causing Japanese-type acatalasemia. Blood Cells Mol Dis. 1995;21(3):232-234.