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Acatalasia

Acatalasemia

Acatalasia, a deficiency of the enzyme catalase, is a relatively benign condition in which the substrate, hydrogen peroxide, may accumulate. Many patients with acatalasia are asymptomatic, while some develop mouth sores.


Presentation

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
  • […] cause cells chance chro chromo chromosome 21 chromosome abnormalities clinical condition congenital cytoplasm diabetes disease dose drugs enzyme example female G6PD gametes gene frequencies genetic counseling genetic factors genotype gonads hemoglobin hemophilia[books.google.de]
Asymptomatic
  • 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]
  • The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Transmission is autosomal recessive. It is often characterized by infection of the gums.[checkorphan.org]
  • Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.[xmri.com]
Flushing
  • During a disk operation, the wound was flushed with hydrogen peroxide, resulting in a blackish brown discoloration of the musculature without the formation of foam.[ncbi.nlm.nih.gov]
  • Summary During a disk operation, the wound was flushed with hydrogen peroxide, resulting in a blackish brown discoloration of the musculature without the formation of foam.[link.springer.com]
Formication
  • In rodents it both detoxifies reactive oxygen species (ROS) and metabolizes MeOH and its formic acid (FA) metabolite [5] .[gulfdoctor.net]

Workup

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].

Treatment

  • 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]
  • What are the treatments for Acatalasemia? The most serious of the effects of Acatalesimia is oral gangrene. That is progressive and demands immediate medical attention by the proper specialist.[patientworthy.com]
  • Treatment - Acatalasemia Not supplied.[checkorphan.org]
  • Treatment includes surgery, tooth extraction, and antimicrobial therapy.[britannica.com]

Prognosis

  • Prognosis - Acatalasemia Not supplied. Treatment - Acatalasemia Not supplied.[checkorphan.org]
  • Treatment and prognosis Once these lesions become established and encapsulated then conservative management is rarely successful (e.g. compression bandages).[radiopaedia.org]

Etiology

  • Therefore, as important is clinical suspicion as are initial examinations aimed at pointing out at the possible etiology of this hematuria with vascular origin.[revistanefrologia.com]

Epidemiology

  • (April 2017) Epidemiology [ edit ] Researchers estimate that the condition occurs in every 12,500th person in Japan, every 20,000th in Hungary, and every 20,000th person in Switzerland. [4] 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]
Sex distribution
Age distribution

Prevention

  • It also focuses on the novel agents and methods that can be employed to prevent oxidative stress and associated diseases.The authors first review the most recent data on the basic mechanisms of oxidative stress.[books.google.es]
  • 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]
  • You should be … Here is what one reads under the “antioxidants” entry: “Antioxidants are widely used in dietary supplements and have been investigated for the prevention of diseases such as cancer, coronary heart disease and even altitude sickness .[thepowerofozone.com]
  • Surgical drainage may be sufficient, although in some instances the capsule needs to be resected to prevent re-accumulation.[radiopaedia.org]

References

Article

  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.

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Last updated: 2017-10-12 08:45