Acatalasemia is a rare genetic condition characterized by the absence or extremely low levels of the enzyme catalase. Catalase plays a critical role in the breakdown of hydrogen peroxide, a harmful byproduct of cell metabolism. Without sufficient levels of catalase, hydrogen peroxide can accumulate in the body, leading to tissue damage and other health problems.
Acatalasemia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The gene associated with acatalasemia is known as CAT, and mutations in this gene are responsible for the absence or reduced activity of catalase.
Due to its rarity, acatalasemia is not well known in the general population. However, there are advocacy and support groups, such as the Acatalasemia Support Center, that provide information and resources for individuals and families affected by this condition. Additional information can also be found on websites like OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain scientific articles and references related to acatalasemia and other catalase-related disorders.
The symptoms of acatalasemia can vary widely from mild to severe, and may include recurrent ulcers, gum disease, and other problems related to tissue damage caused by hydrogen peroxide accumulation. Diagnosis of acatalasemia can be confirmed through genetic testing, which can detect mutations in the CAT gene.
In cases where acatalasemia is suspected, it is important for patients to consult with a healthcare professional for a proper diagnosis and to learn about management options. While there is no specific treatment for acatalasemia, individuals with this condition may benefit from measures to minimize exposure to hydrogen peroxide and maintain good oral health. Close monitoring and regular check-ups are also recommended to address any potential complications or associated health issues.
In summary, acatalasemia is a rare genetic condition caused by mutations in the CAT gene, leading to the absence or low activity of the enzyme catalase. This condition can cause tissue damage and other health problems due to the accumulation of hydrogen peroxide in the body. Support and resources are available for individuals and families affected by acatalasemia, and genetic testing can confirm the diagnosis. Close medical supervision and regular check-ups are important for managing the condition and addressing any associated health complications.
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Frequency
Acatalasemia, also known as hypocatalasemia, is a rare genetic condition that affects the body’s ability to break down hydrogen peroxide. Hydrogen peroxide is a chemical that is produced by cells as a byproduct of normal metabolism. In individuals with acatalasemia, there is a deficiency of the enzyme catalase, which is responsible for breaking down hydrogen peroxide into water and oxygen.
Acatalasemia is a very rare condition, with only a few hundred cases reported worldwide. It is most commonly seen in people of Japanese, Korean, and Chinese descent, but cases have been reported in other ethnic groups as well.
The exact cause of acatalasemia is not fully understood, but it is thought to be caused by mutations in the CAT gene, which provides instructions for making the catalase enzyme. These mutations can result in the production of an inactive or nonfunctional enzyme.
Acatalasemia is typically inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to have the condition. Individuals who inherit only one copy of the mutated gene are carriers of the condition and do not usually have any health problems.
Additional information about the frequency of acatalasemia and other related diseases can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific information about the condition, including the number of reported cases and any associated health problems.
Due to the rarity of acatalasemia, there may be limited resources and support available for patients and their families. However, advocacy groups and genetic testing centers can provide additional information and support for those affected by this condition.
References:
- “Acatalasemia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/1664/acatalasemia.
- “Acatalasemia.” OMIM, Johns Hopkins University, www.omim.org/entry/614097.
Causes
Acatalasemia is a rare genetic condition in which the patient has a deficiency or complete absence of the enzyme catalase, resulting in various health problems. This condition is caused by mutations in the CAT gene, which provides instructions for making the catalase enzyme.
Most cases of acatalasemia are inherited in an autosomal recessive pattern, which means that both copies of the CAT gene in each cell have mutations. Individuals with only one mutated copy of the gene are carriers of the condition and do not typically experience any symptoms.
Acatalasemia is more common in certain populations, such as the Japanese population, where the frequency of the condition is estimated to be 1 in 30,000 individuals. However, it is considered a rare disease worldwide.
Other genetic diseases associated with acatalasemia include hypocatalasemia, which is characterized by decreased catalase activity, and peroxide ulcers syndrome, which is characterized by recurrent ulcers in the mouth and other mucous membranes.
To learn more about the causes of acatalasemia and related conditions, you can find additional information from sources such as scientific articles, the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and genetic testing centers.
| Organization | Website |
|---|---|
| Acatalasia Support Center | www.acatalasia.org |
| National Organization for Rare Disorders (NORD) | www.rarediseases.org |
| Genetic and Rare Diseases Information Center (GARD) | rarediseases.info.nih.gov |
| OMIM | www.omim.org |
| PubMed | www.pubmed.ncbi.nlm.nih.gov |
Learn more about the gene associated with Acatalasemia
Acatalasemia is a rare genetic condition that affects the production of the enzyme catalase. This enzyme is responsible for breaking down hydrogen peroxide, a harmful chemical that is produced during normal cell metabolism. Without enough catalase, hydrogen peroxide can accumulate in the body and cause a variety of health problems.
The gene associated with acatalasemia is called CAT. Mutations in this gene can lead to reduced or absent catalase activity, causing the symptoms of the condition. Acatalasemia is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Acatalasemia is very rare, and there are only a few documented cases of the condition in the scientific literature. As a result, there is limited information available on the specific symptoms and complications that may be associated with acatalasemia. However, some patients with the condition have been reported to experience oral ulcers and other health problems related to the accumulation of hydrogen peroxide.
If you are a patient or a family member of someone with acatalasemia, it is important to consult with a healthcare professional who specializes in genetics. They can provide you with more information about the condition and help you understand the genetic inheritance pattern.
There are also a number of advocacy organizations and support groups that provide resources and information for individuals with rare genetic diseases like acatalasemia. These organizations can connect you with other individuals who have similar conditions and provide additional support and guidance.
If you are interested in learning more about the gene associated with acatalasemia, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides detailed information on genetic disorders and the associated genes. The National Center for Biotechnology Information (NCBI) also provides a wealth of articles and references on the topic.
Genetic testing can be done to confirm a diagnosis of acatalasemia. This involves analyzing a sample of DNA to look for mutations in the CAT gene. However, it is important to note that genetic testing may not be readily available for all individuals, particularly in cases where the condition is extremely rare.
In summary, acatalasemia is a rare genetic condition associated with mutations in the CAT gene, which affects the production of the catalase enzyme. Limited information is available on the specific symptoms and complications of acatalasemia, but there are resources and support available for individuals with this condition. Genetic testing can be performed to confirm a diagnosis, but availability may be limited.
Inheritance
Acatalasemia is a rare genetic condition caused by mutations in the CAT gene that is responsible for producing the enzyme catalase. Catalase is an essential enzyme that helps break down hydrogen peroxide, a harmful byproduct of cell metabolism, into water and oxygen. Individuals with acatalasemia have low or absent levels of catalase, leading to an accumulation of hydrogen peroxide and subsequent health problems.
The inheritance of acatalasemia follows an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated CAT gene (one from each parent) in order to develop the condition. Carriers of a single copy of the mutated gene are typically unaffected but can pass the mutation on to their children.
Acatalasemia is a rare condition, and its frequency varies among different populations. It has been reported to be more common in individuals of Japanese descent, with around 1 in 3,000 individuals affected. On the other hand, acatalasemia is extremely rare in other populations.
In addition to acatalasemia, mutations in the CAT gene can also cause a similar condition called hypocatalasemia, which is characterized by low levels of catalase rather than its absence. Hypocatalasemia may have milder symptoms compared to acatalasemia.
There are currently no known additional health problems associated with acatalasemia or hypocatalasemia. Symptoms of acatalasemia can vary widely among individuals, but some common problems include oral ulcers, bleeding gums, frequent infections, and gray hair. However, it is important to note that not all individuals with acatalasemia will experience these symptoms.
Diagnosis of acatalasemia can be confirmed through genetic testing, which involves analyzing the CAT gene for mutations. Genetic counseling may be recommended for individuals with a family history of the condition or those who are carriers of the mutated gene.
For more information about acatalasemia and related genetic conditions, the following resources may be helpful:
- Online Mendelian Inheritance in Man (OMIM) (www.omim.org) provides scientific information about genes and associated diseases, including acatalasemia and hypocatalasemia.
- National Center for Biotechnology Information (NCBI) Gene (www.ncbi.nlm.nih.gov/gene) is a comprehensive catalog of genes and their functions. Search for “CAT gene” to learn more about the CAT gene and its role in acatalasemia.
- Genetic and Rare Diseases Information Center (GARD) (rarediseases.info.nih.gov) offers information about rare diseases, including acatalasemia and hypocatalasemia. GARD provides resources for patients, families, healthcare professionals, and advocacy groups.
- PubMed (www.ncbi.nlm.nih.gov/pubmed) contains a vast collection of scientific articles on various topics. Search for “acatalasemia” or “hypocatalasemia” to find more research papers and case studies on these conditions.
It is important to consult healthcare professionals and genetic specialists for the most accurate and up-to-date information about acatalasemia and its inheritance. They can provide guidance on testing, management, and support for individuals and families affected by these rare genetic conditions.
Other Names for This Condition
- Acatalasemia
- Hypocatalasemia
- Acatalasia
Acatalasemia has several other names, including hypocatalasemia and acatalasia. These names are used to describe the same condition, which is a rare genetic disorder characterized by the absence or very low levels of the enzyme catalase. Catalase plays a crucial role in the breakdown of hydrogen peroxide, a chemical that can cause ulcers and other health problems when it accumulates in the body.
Acatalasemia is caused by mutations in the CAT gene, which provides instructions for making the catalase enzyme. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. This rare genetic condition has been cataloged in the online Mendelian Inheritance in Man (OMIM) database, which provides more information about the genetic and clinical aspects of the condition.
While acatalasemia is a rare condition, there are advocacy and support resources available for patients and families affected by this condition. These resources can help individuals learn more about acatalasemia, connect with others who have the condition, and find additional information about genetic testing and associated health problems. Additional articles and references on acatalasemia can be found on PubMed, a resource for biomedical literature.
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Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including acatalasemia. You can learn more about the disease, its inheritance patterns, and related genes by visiting the OMIM website.
- PubMed: PubMed is a valuable resource for accessing scientific articles and studies related to acatalasemia. By searching for acatalasemia on PubMed, you can find up-to-date research on the disease, its causes, and potential treatments.
- Acatalasemia Support Center: This organization offers support and resources for individuals and families affected by acatalasemia. You can find more information about the condition, connect with other patients, and access additional resources through their website.
- Genetic Testing: Genetic testing can help diagnose acatalasemia and provide more information about its underlying genetic causes. Consult a healthcare professional or genetic counselor to learn more about the availability and benefits of genetic testing for this rare disease.
- Additional Resources: The Hypocatalasemia and Acatalasia Research Center is dedicated to studying and raising awareness about these conditions. They maintain a catalog of references and resources about acatalasemia and related diseases. Visit their website for more information.
- Advocacy and Support: Various advocacy groups committed to supporting rare disease patients may offer additional information and resources related to acatalasemia. Reach out to organizations such as the Rare Diseases Foundation for more support and assistance.
Genetic Testing Information
Acatalasemia is a rare genetic disorder that causes problems with the body’s ability to break down hydrogen peroxide. It is also known as hypocatalasemia. This condition is caused by mutations in the CAT gene.
Inheritance of acatalasemia is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene in order to develop the condition. The frequency of acatalasemia in most populations is unknown, but it is considered to be rare.
Genetic testing can be done to confirm a diagnosis of acatalasemia. This testing can also determine if a person is a carrier of the gene mutation. Testing may involve sequencing of the CAT gene to identify specific mutations.
In addition to acatalasemia, there are other diseases and conditions associated with mutations in the CAT gene. These include hypocatalasemia and acatalasia. The Genetic Testing Registry (GTR) is a great resource to learn more about these conditions and the genes involved.
For patients and families affected by acatalasemia, genetic testing can provide valuable information for understanding the cause of the disease and its inheritance pattern. It can also help guide treatment options and provide information about the risk of passing the condition on to future generations.
Support and advocacy groups can provide additional information and resources for individuals and families affected by acatalasemia. These organizations can offer support, education, and connections to other patients and families. Some notable advocacy organizations include the Acatalasemia Support Center and the Patient Advocate Foundation.
Scientific articles and research papers can also provide more information about acatalasemia and related conditions. PubMed, a database of scientific articles, can be a great resource for finding relevant research on this topic. The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for genetic information, including acatalasemia.
Genetic testing for acatalasemia and other related conditions can be done through specialized laboratories and genetic testing centers. These tests can help confirm a diagnosis and provide valuable information for managing the disease. If you or a loved one have symptoms or a family history that suggests acatalasemia, speak to a healthcare provider about genetic testing options.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an advocacy and information center that provides resources and support for patients and families affected by rare and genetic diseases. The center serves as a comprehensive catalog of information on various rare diseases, including acatalasemia.
Acatalasemia, also known as hypocatalasemia, is a rare genetic condition characterized by the absence or significant reduction of the enzyme catalase. Catalase is responsible for breaking down hydrogen peroxide, a reactive chemical produced in cells. The lack of catalase activity in individuals with acatalasemia can lead to various health problems, including ulcers and other related conditions.
Acatalasemia is an inherited condition, and its frequency in the general population is not well-known. However, it has been reported in isolated cases and in certain populations. Additional research and scientific studies on the causes and inheritance of acatalasemia are necessary to learn more about this rare disease.
For more information on acatalasemia, including genetic testing, the scientific literature, and other resources, GARD provides various references and articles. These resources can help individuals to better understand the condition, its symptoms, and available treatment options.
Individuals and families affected by acatalasemia can find support and information on GARD’s website. The center is committed to raising awareness about rare and genetic diseases and providing resources to improve the quality of life for those affected.
References:
- OMIM
- PubMed
Note: This article is for informational purposes only and is not meant to replace professional medical advice. Consult with a healthcare provider for more information about acatalasemia or any other genetic condition.
Patient Support and Advocacy Resources
Acatalasemia is a rare genetic disease caused by mutations in the CAT gene, which is responsible for producing the enzyme catalase. Catalase is essential for breaking down hydrogen peroxide in the body. Without enough catalase, hydrogen peroxide can build up to toxic levels, leading to a variety of health problems.
For patients with acatalasemia and their families, it can be helpful to connect with others who understand the challenges associated with the condition. Patient support and advocacy resources can provide valuable information, emotional support, and a community of individuals facing similar experiences.
Resources for Information and Support
- National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization dedicated to rare diseases. They provide information on acatalasemia, including the frequency of the condition, associated health problems, and other useful resources.
- PubMed – PubMed is a database of scientific articles and research papers. It can be a valuable resource for learning more about acatalasemia, its causes, and related research.
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on acatalasemia, including genetic inheritance patterns and additional rare scientific cases.
Support Groups and Online Communities
- Acatalasia Information Center – The Acatalasia Information Center is an online resource center for individuals with acatalasemia and their families. It offers information about the condition, coping strategies, and patient support resources.
- Rare Diseases Support Network – The Rare Diseases Support Network is an online community for individuals affected by rare diseases. They have a specific group dedicated to acatalasemia, allowing patients and families to connect, share experiences, and offer support.
By connecting with these patient support and advocacy resources, individuals with acatalasemia can gain access to valuable information, support, and a network of people who understand the challenges they face. These resources can also provide guidance on managing symptoms, coping with the condition, and finding additional support for associated health problems such as ulcers.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases that provides valuable information for scientific research, patient advocacy, and genetic testing. It is a valuable resource for healthcare professionals, geneticists, and researchers working in the field of genetics and genomics.
OMIM collects and organizes information about genes and genetic diseases from various sources, including scientific articles, pubmed, and other resources. It provides detailed descriptions of genes and their associated diseases, as well as information about their frequency, causes, and clinical features.
One of the diseases included in OMIM is acatalasemia, also known as hypocatalasemia or acatalasia. Acatalasemia is a rare genetic condition that is characterized by the absence or deficiency of the enzyme catalase, which helps break down hydrogen peroxide. This condition can cause health problems such as ulcers and other oxidative stress-related conditions.
In OMIM, acatalasemia is associated with specific genes that are responsible for the condition. The catalog provides detailed information about these genes, their genetic variations, and their effects on the individual. It also lists additional resources and references for further learning and support.
OMIM’s catalog includes a wide range of genetic diseases, both rare and common, providing a comprehensive resource for understanding genetic conditions. It not only provides information about the genetic causes of diseases but also offers insights into their clinical features, management, and possible treatment options.
Overall, the OMIM catalog serves as a valuable tool for researchers, healthcare professionals, and individuals interested in the field of genetics. It offers a wealth of information about genes, genetic diseases, and related clinical features, contributing to the advancement of genetic research and the improvement of patient care.
Scientific Articles on PubMed
Acatalasemia is a rare genetic condition characterized by a lack of the enzyme catalase, which is responsible for breaking down hydrogen peroxide in the body. This condition can have several chemical and genetic causes.
Scientific articles on PubMed have identified various causes for acatalasemia, including mutations in the CAT gene, which encodes the catalase enzyme. Additional studies have also found that this condition can be inherited in an autosomal recessive manner.
Acatalasemia has been associated with a range of health problems, including ulcers, oral health issues, and an increased risk of certain cancers. The frequency of this rare disease varies among different populations and geographic regions.
Scientific articles on PubMed provide a wealth of information about the genetics and molecular biology of acatalasemia. These resources can help researchers and healthcare professionals learn more about the condition and its associated health concerns.
In addition to scientific articles, PubMed also offers a catalog of additional references, including case studies, genetic testing information, and resources for patients and healthcare providers. These resources can provide further insight into the clinical presentation, diagnosis, and management of acatalasemia.
Furthermore, PubMed provides information on other related genetic conditions, such as hypocatalasemia, which is characterized by low levels of catalase activity. These resources can help healthcare professionals and researchers understand the similarities and differences between these conditions.
Overall, PubMed is a valuable resource for accessing scientific articles and genetic information about acatalasemia and other related conditions. It offers a comprehensive collection of research findings, case reports, and genetic data that can support further research and improve patient care.
References
- OMIM: This online catalog of human genes and genetic disorders provides information on the causes, inheritance, and frequency of acatalasemia and other associated diseases. It also offers links to related scientific articles and additional resources for genetic testing. (OMIM)
- Hypocatalasemia: More information about the condition of hypocatalasemia, which is closely related to acatalasemia, can be found in this scientific article. (Hypocatalasemia)
- Acatalasia Support Center: The Acatalasia Support Center provides advocacy, patient support, and resources for individuals and families affected by acatalasemia. They offer information on the condition, genetic testing, and more. (Acatalasia Support Center)
- Chemical and Ulcers: This scientific article discusses the association between acatalasemia and ulcers, which are a common health problem in individuals with the condition. (Chemical and Ulcers)
- Rare Diseases: Learn more about rare genetic diseases, including acatalasemia, at the Rare Diseases Information Center. They provide information on symptoms, diagnosis, and management of these conditions. (Rare Diseases Info Center)
- Additional Resources: Additional information and resources about acatalasemia can be found at the following websites:
