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<span>Acatalasemia</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/acatalasemia/</span>
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<h1>Acatalasemia</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members.</p><p>Some of the first reported individuals with acatalasemia developed open sores (ulcers) inside the mouth that led to the death of soft tissue (gangrene). When mouth ulcers and gangrene occur with acatalasemia, the condition is known as Takahara disease. These complications are rarely seen in more recent cases of acatalasemia, probably because of improvements in oral hygiene.</p><p>Studies suggest that people with acatalasemia have an increased risk of developing <a data-pid="16841" href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">type 2 diabetes</a>, which is the most common form of diabetes. A higher percentage of people with acatalasemia have type 2 diabetes than in the general population, and the disease tends to develop at an earlier age (in a person's thirties or forties, on average). Researchers speculate that acatalasemia could also be a risk factor for other common, complex diseases; however, only a small number of cases have been studied.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown.</p></div>
</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <em><a data-pid="19409" href="https://medlineplus.gov/genetics/gene/cat/">CAT</a></em> gene can cause acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into oxygen and water. Hydrogen peroxide is produced through chemical reactions within cells. At low levels, it is involved in several chemical signaling pathways, but at high levels it is toxic to cells. If hydrogen peroxide is not broken down by catalase, additional reactions convert it into compounds called reactive oxygen species that can damage DNA, proteins, and cell membranes.</p><p>Mutations in the <em>CAT</em> gene greatly reduce the activity of catalase. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene. A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called <a class="image-modal" data-alt="Diagram showing structure of an insulin molecule" data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX00011K_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00011K" data-sourceurl="" data-title="Insulin molecule" href="https://medlineplus.gov/images/PX00011K_PRESENTATION.jpeg" id="PX00011K_2" title="Show image">insulin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> that helps control blood glucose, also called blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes in people with acatalasemia. It is unclear why some people have no health problems associated with a loss of catalase activity.</p><p>Many people with reduced catalase activity do not have an identified mutation in the <em>CAT</em> gene; in these cases, the cause of the condition is unknown. Researchers believe that other genetic and environmental factors can also influence the activity of catalase.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Acatalasemia</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/cat/">CAT</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>Acatalasemia has an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> of inheritance, which means both copies of the <i><a data-pid="19409" href="https://medlineplus.gov/genetics/gene/cat/">CAT</a></i> gene in each cell have mutations. When both copies of the gene are altered, the activity of catalase is reduced to less than 10 percent of normal.</p><p>When only one of the two copies of the <i>CAT</i> gene has a mutation, the activity of catalase is reduced by approximately half. This reduction in catalase activity is often called hypocatalasemia. Like acatalasemia, hypocatalasemia usually does not cause any health problems.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Acatalasia</li> <li>Catalase deficiency</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268419/" target="TheNewWin">Genetic Testing Registry: Acatalasia</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/363/index" target="TheNewWin">Acatalasemia</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
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</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/614097" target="TheNewWin">ACATALASEMIA</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28acatalasemia%5BMAJR%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Goth L, Eaton JW. Hereditary catalase deficiencies and increased risk of
diabetes. Lancet. 2000 Nov 25;356(9244):1820-1. doi:
10.1016/S0140-6736(00)03238-4. <a href="https://pubmed.ncbi.nlm.nih.gov/11117918" target="TheNewWin">Citation on PubMed</a></li>
<li>Goth L, Nagy T. Acatalasemia and diabetes mellitus. Arch Biochem Biophys. 2012
Sep 15;525(2):195-200. doi: 10.1016/j.abb.2012.02.005. Epub 2012 Feb 16. <a href="https://pubmed.ncbi.nlm.nih.gov/22365890" target="TheNewWin">Citation on PubMed</a></li>
<li>Goth L, Nagy T. Inherited catalase deficiency: is it benign or a factor in
various age related disorders? Mutat Res. 2013 Oct-Dec;753(2):147-154. doi:
10.1016/j.mrrev.2013.08.002. Epub 2013 Sep 8. <a href="https://pubmed.ncbi.nlm.nih.gov/24025477" target="TheNewWin">Citation on PubMed</a></li>
<li>Goth L, Rass P, Pay A. Catalase enzyme mutations and their association with
diseases. Mol Diagn. 2004;8(3):141-9. doi: 10.1007/BF03260057. <a href="https://pubmed.ncbi.nlm.nih.gov/15771551" target="TheNewWin">Citation on PubMed</a></li>
<li>Goth L. A new type of inherited catalase deficiencies: its characterization
and comparison to the Japanese and Swiss type of acatalasemia. Blood Cells Mol
Dis. 2001 Mar-Apr;27(2):512-7. doi: 10.1006/bcmd.2001.0415. <a href="https://pubmed.ncbi.nlm.nih.gov/11500062" target="TheNewWin">Citation on PubMed</a></li>
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<li><a href="https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/">What are the different ways a genetic condition can be inherited?</a></li>
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