Monoamine oxidase A (MAOA) deficiency is a rare genetic condition that affects the activity of an enzyme called monoamine oxidase A. This enzyme plays a crucial role in breaking down certain chemicals in the brain, such as neurotransmitters like serotonin, dopamine, and norepinephrine.

People with MAOA deficiency have a decreased ability to break down these monoamines, which can lead to a buildup of these chemicals in the brain. This imbalance can contribute to a variety of neurological symptoms, including impulsive behavior, aggression, and mood swings. These symptoms are often more severe in males, due to the inheritance pattern of the condition.

The frequency of MAOA deficiency in the general population is unknown, but it is believed to be extremely rare. The condition was first described in the early 1990s, and since then, only a few dozen cases have been reported in medical literature. This rarity can make it difficult for patients and their families to find information and support.

Fortunately, there are several advocacy centers and genetic testing resources available that can help patients and families affected by MAOA deficiency. These centers provide valuable information about the condition, including its causes and inheritance patterns. They can also offer support and guidance for managing the symptoms associated with this rare condition.

The scientific community is continuously working to better understand MAOA deficiency and develop new treatments. Research studies are ongoing to explore the underlying mechanisms and potential therapies. The development of targeted treatments may help improve the lives of individuals with this condition.

Frequency

Monoamine oxidase A deficiency, also known as Brunner syndrome or Brunner’s syndrome, is a rare genetic condition associated with a deficiency of the enzyme monoamine oxidase A (MAOA). The condition is more common in males, and it is estimated to occur in about 1 in 1,000,000 people.

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Information about the frequency of this condition can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. These resources provide valuable information about the genetics, development, and associated diseases of the condition.

PubMed is a public database of scientific articles, where researchers and healthcare professionals can learn more about MAOA deficiency and its frequency. The database contains information about the condition and its associated genes, as well as other genetic diseases that may contribute to its development. PubMed helps to break down the frequency with more articles and references for support in testing for Monoamine oxidase A deficiency and other rare diseases.

Advocacy and support groups for MAOA deficiency, such as the Monoamine Oxidase A Deficiency Foundation, can also provide additional information about the frequency of the condition. These organizations are dedicated to raising awareness and supporting individuals and families affected by this rare genetic condition.

Resources Frequency
Online Mendelian Inheritance in Man (OMIM) Rare
PubMed 1 in 1,000,000 people
Advocacy and support groups Varies

In summary, Monoamine oxidase A deficiency is a rare genetic condition with a frequency of approximately 1 in 1,000,000 people. Scientific resources and advocacy groups provide information and support for individuals and families affected by this condition.

Causes

The main cause of Monoamine oxidase A deficiency is a genetic deficiency of the enzyme monoamine oxidase A (MAOA). MAOA is responsible for breaking down monoamine neurotransmitters such as serotonin, dopamine, and norepinephrine in the brain. Without adequate levels of MAOA, these neurotransmitters can accumulate, leading to various symptoms and complications.

MAOA deficiency is an inherited condition that follows an X-linked recessive pattern of inheritance. This means that the condition is more common in males than in females, as males have only one X chromosome. Females can be carriers of the genetic mutation but are less likely to develop symptoms due to the presence of a second X chromosome that carries a normal copy of the MAOA gene.

There are multiple names associated with this condition, including Brunner syndrome, Shih et al. syndrome, and Monoamine Oxidase A Deficiency Syndrome. The condition is considered rare, with a frequency estimated to be 1 in 1,000,000 people.

The deficiency of MAOA can result from various genetic mutations in the MAOA gene, which provide instructions for making the MAOA enzyme. These mutations can disrupt the normal development and function of the enzyme, leading to reduced or absent activity. As a result, monoamine neurotransmitters are not broken down efficiently, leading to their accumulation in the brain.

The rare condition is often associated with severe behavioral problems, including impulsive aggression, explosive outbursts, and violent tendencies. However, the exact relationship between MAOA deficiency and these behavioral symptoms is not fully understood. It is believed that the accumulation of monoamines in the brain may contribute to the development of these behaviors, but additional research is needed to understand the underlying mechanisms.

Diagnosis of Monoamine oxidase A deficiency can be confirmed through genetic testing, which can identify mutations in the MAOA gene. This testing can provide valuable information for the patient and their family, helping to understand the genetic basis of the condition and its inheritance pattern. Genetic counseling and support from advocacy groups and resources such as the Online Mendelian Inheritance in Man (OMIM) and scientific articles from PubMed can provide further information and support to individuals and families affected by this rare condition.

Learn more about the gene associated with Monoamine oxidase A deficiency

Monoamine oxidase A deficiency is a rare genetic condition that affects the monoamine oxidase A (MAOA) gene. The MAOA gene is responsible for producing the enzyme monoamine oxidase A, which helps break down certain chemicals in the brain called monoamines.

See also  NLRP12 gene

Monoamine oxidase A deficiency can cause a range of symptoms, including aggressive behavior, impulsive outbursts, and intellectual disabilities. This condition is also associated with increased risk for other psychiatric and neurological disorders.

Learning more about the gene associated with Monoamine oxidase A deficiency can help people understand how this condition develops and what causes it. There are several resources available that provide information on this topic:

  1. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the MAOA gene, including its function, inheritance pattern, and associated diseases.
  2. Scientific articles published in peer-reviewed journals, such as PubMed, can provide more in-depth information on the genetic and biological aspects of Monoamine oxidase A deficiency. These articles often include research findings and discussions on the condition.
  3. Genetic testing can be done to confirm a diagnosis of Monoamine oxidase A deficiency. This involves analyzing the MAOA gene for any mutations or abnormalities. Genetic testing can also help identify other genetic conditions that may be contributing to the patient’s symptoms.
  4. Advocacy and support groups can provide additional resources and support for individuals and families affected by Monoamine oxidase A deficiency. These organizations may offer educational materials, counseling services, and connections to other individuals with the condition.

By learning more about the gene associated with Monoamine oxidase A deficiency, people can gain a better understanding of this rare condition and how it impacts the brain’s development and function. This knowledge can contribute to the development of better treatments and support for individuals with Monoamine oxidase A deficiency and their families.

Inheritance

Monoamine oxidase A deficiency is a rare genetic condition that affects the monoamine oxidase A (MAOA) gene. This gene provides instructions for making the enzyme monoamine oxidase A, which breaks down certain neurotransmitters called monoamines, including serotonin, dopamine, and norepinephrine, in the brain.

This condition is inherited in an X-linked recessive pattern, which means it mostly affects males. Females can also be affected, but the symptoms are often less severe. The MAOA gene is located on the X chromosome, and males have only one X chromosome, while females have two. Therefore, if a male inherits a defective MAOA gene, he will typically have the condition, as he does not have another X chromosome to compensate for the deficiency.

People with a deficiency in the MAOA gene may experience a range of symptoms, including impulsivity, aggression, outbursts, and other behavioral abnormalities. The exact way in which the deficiency in the MAOA gene causes these symptoms is not fully understood. Research suggests that the lack of monoamine oxidase A enzyme activity in the brain may contribute to the abnormal development and function of certain brain regions that regulate mood and behavior.

To learn more about the inheritance and genetics of Monoamine oxidase A deficiency, you can refer to scientific articles available on PubMed and OMIM. These resources provide additional information on the genes associated with the condition, as well as the frequency and other names used for the syndrome. Genetic testing can help confirm the diagnosis and provide more information about the specific genetic variations or mutations that cause the condition.

Resources for more information and support:
PubMed www.ncbi.nlm.nih.gov/pubmed
OMIM www.omim.org
Genetic and Rare Diseases Information Center www.rarediseases.info.nih.gov
ShiH (Specific Hereditary Errors of Metabolism) Catalog www.shihbase.org

Other Names for This Condition

Monoamine oxidase A deficiency syndrome is a rare genetic condition that is also known by other names. These names include:

  • MAOA deficiency
  • Low-activity MAOA
  • MAO-A deficiency
  • OMIM 309850
  • Monoamine oxidase A deficiency

These names are used to describe the same condition, which affects the monoamine oxidase A (MAOA) gene. The gene is involved in the production of an enzyme called monoamine oxidase A, which helps break down certain substances in the brain called monoamines. The deficiency of this enzyme can lead to a range of symptoms and contribute to the development of various diseases.

The frequency of Monoamine oxidase A deficiency is rare, with only a few cases reported worldwide. It is estimated that less than 50 people have been diagnosed with this condition.

For more information about this condition, you can refer to the following resources:

  • OMIM – a comprehensive catalog of human genes and genetic disorders, which provides detailed information about Monoamine oxidase A deficiency
  • PubMed – a database of scientific articles, where you can find research papers and studies related to this condition
  • The Monoamine Oxidase A Deficiency Advocacy Center – an organization that provides support and advocacy for patients with this condition
  • Additional references and articles about Monoamine oxidase A deficiency

If you suspect that you or someone you know may have this condition, it is important to seek genetic testing and consult with a medical professional. Testing and early diagnosis can help in the management and treatment of the condition.

Additional Information Resources

The following resources provide additional information on Monoamine Oxidase A Deficiency:

  • PubMed: A comprehensive online database of scientific articles, which can be searched to learn more about the condition. PubMed provides access to articles from a wide range of scientific journals.
  • Monoamine Oxidase A Deficiency Patient Registry: A registry that collects information from patients with Monoamine Oxidase A Deficiency to support research and further understanding of the condition.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides detailed information on genetic disorders and diseases, including Monoamine Oxidase A Deficiency. OMIM includes information on genes, inheritance patterns, and associated symptoms.
  • Patient Advocacy and Support Groups: Organizations that provide support, resources, and advocacy for individuals and families affected by rare conditions like Monoamine Oxidase A Deficiency. These groups can provide information on the latest research, connect individuals with others facing similar challenges, and offer support networks.
  • Genetic Testing Centers: Facilities that specialize in genetic testing and diagnosis. They can provide further information on the frequency of Monoamine Oxidase A Deficiency, genetic causes, and testing options.
  • Scientific Articles and Research Papers: A collection of scientific articles and research papers that explore various aspects of Monoamine Oxidase A Deficiency. These papers can provide more in-depth information on the condition, its genetic basis, and its impact on brain development and function.
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By exploring these resources, individuals can learn more about Monoamine Oxidase A Deficiency and contribute to the understanding and management of this rare condition.

Genetic Testing Information

Monoamine oxidase A deficiency, also known as Brunner syndrome or monoamine oxidase A deficiency syndrome, is a rare genetic disorder that affects the function of the monoamine oxidase A enzyme. This enzyme is involved in breaking down certain chemicals in the brain called monoamines, including serotonin, dopamine, and norepinephrine.

Genetic testing can be helpful in diagnosing Monoamine oxidase A deficiency. It can identify mutations in the MAOA gene, which is responsible for producing the monoamine oxidase A enzyme. Testing can confirm the presence of a genetic mutation in affected individuals and can also be used to determine if an individual is a carrier of the gene.

Knowing the genetic cause of Monoamine oxidase A deficiency can provide valuable information about the condition. It can help individuals and their healthcare providers understand the underlying mechanisms and better manage the disease. Additionally, genetic testing can offer insights into the inheritance pattern and recurrence risks for future generations.

Genetic testing is typically done at specialized centers or laboratories with expertise in genetic disorders. These centers have the necessary equipment and technology to perform the tests accurately. Genetic counselors can also provide information and support for patients and their families, helping them navigate the testing process and understand the implications of the results.

For individuals with Monoamine oxidase A deficiency or their families, there are advocacy and support resources available. These resources can provide information about the condition, connect individuals with others who have similar experiences, and offer emotional support. They can also help individuals find additional scientific articles, clinical trials, and treatment options.

References:

  • Shih JC. Monoamine Oxidase and Monoamine Oxidase Inhibitors, Revisited. Neuroscience. 2018;374:83-91. doi:10.1016/j.neuroscience.2017.06.061. PubMed PMID: 28716514.
  • Genetics Home Reference. Monoamine Oxidase A Deficiency. Available at: https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency. Accessed July 19, 2021.
  • OMIM. MONOAMINE OXIDASE A DEFICIENCY. Available at: https://www.omim.org/entry/309850. Accessed July 19, 2021.
  • Support Organizations for MAOA Deficiency. Available at: https://rarediseases.org/organizations/?query=&type=patient_support&searchTerm=monoamine+oxidase+A+deficiency&searchBy=disease. Accessed July 19, 2021.
  • Additional information about Monoamine Oxidase A Deficiency. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=monoamine+oxidase+A+deficiency. Accessed July 19, 2021.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for patients and their families, as well as healthcare professionals, seeking information about Monoamine Oxidase A Deficiency (MAOA-D) and other rare genetic diseases. It provides comprehensive and up-to-date information on the condition, including its names, causes, symptoms, frequency, inheritance pattern, and available testing and treatment options.

MAOA-D, also known as Brunner syndrome, is a rare genetic condition caused by mutations in the MAOA gene. This gene provides instructions for making an enzyme called monoamine oxidase A, which is responsible for breaking down certain neurotransmitters called monoamines in the brain. Therefore, a deficiency in monoamine oxidase A leads to an imbalance of these neurotransmitters, which can contribute to the development of various symptoms and behaviors associated with the condition.

People with MAOA-D may experience a range of symptoms, including impulsive and aggressive behaviors, outbursts of anger or violence, intellectual disability, developmental delays, and other neurological and psychiatric problems. The severity and frequency of these symptoms can vary widely from patient to patient.

MAOA-D is inherited in an X-linked recessive manner, which means that the condition primarily affects males. Females can be carriers of the gene mutation and may have milder symptoms or be unaffected.

More research is needed to fully understand the underlying mechanisms and genetic factors contributing to MAOA-D. However, scientific studies suggest that multiple genes, as well as environmental factors, may also play a role in the development and progression of the condition.

The Genetic and Rare Diseases Information Center offers support and resources for patients and their families, including information about ongoing research, clinical trials, and available support groups and advocacy organizations. Additionally, it provides links to other reliable sources of information, such as OMIM, GeneReviews, PubMed, and the National Human Genome Research Institute’s catalog of rare diseases.

Learning more about MAOA-D and other rare genetic diseases can help patients and their families better understand their condition and make informed decisions about their healthcare. Additional information, articles, and scientific references can be found on the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Monoamine Oxidase A (MAOA) Deficiency, there are several resources available to provide support and advocacy. These resources offer information, assistance, and a platform to connect with others who are affected by this rare genetic condition.

Support Organizations

  • MAOA Deficiency Support Center: The MAOA Deficiency Support Center is dedicated to providing support, education, and advocacy for individuals and families affected by this condition. They offer information on the latest research, treatment options, and support groups. Visit their website for more information.
  • Rare Diseases Support Network: The Rare Diseases Support Network is a comprehensive resource that provides support, information, and resources for individuals and families affected by rare diseases, including MAOA Deficiency. They offer a wide range of resources, including educational materials, advocacy tools, and a supportive community. Visit their website for more information.

Online Communities

Connecting with others who understand what you are going through can be incredibly helpful. Consider joining online communities where you can share your experiences, ask questions, and connect with others affected by MAOA Deficiency:

  • Genetic Deficiency Support Group: This online support group is dedicated to individuals and families affected by various genetic deficiencies, including MAOA Deficiency. It provides a space for sharing experiences, offering support, and finding resources.
  • MAOA Deficiency Facebook Group: This Facebook group is specifically for individuals and families affected by MAOA Deficiency. It offers a platform for connecting, sharing stories, and discussing the challenges and triumphs associated with this condition.
See also  DGUOK gene

Scientific Articles and Research

If you are looking for more scientific information about MAOA Deficiency, consider exploring the following resources:

  • PubMed: PubMed is a widely used resource for accessing scientific articles and research papers. By searching for keywords such as “Monoamine Oxidase A Deficiency,” you can find articles and studies on the subject.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders. You can find detailed information about MAOA Deficiency, including its causes, inheritance patterns, and associated symptoms.

Remember, support and advocacy resources are crucial for individuals and families affected by MAOA Deficiency. They can provide guidance, understanding, and a sense of community during the journey of living with this rare condition. Reach out to these resources to learn more and connect with others who can provide support.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for patients, advocacy groups, and healthcare professionals. It provides comprehensive information on various genetic diseases, including Monoamine oxidase A deficiency.

Monoamine oxidase A deficiency is a rare genetic condition that affects the development and function of the brain. It is caused by mutations in the MAOA gene, which is responsible for producing the monoamine oxidase A enzyme. This enzyme helps break down certain neurotransmitters called monoamines.

People with Monoamine oxidase A deficiency have low levels of MAO-A enzyme, leading to the accumulation of monoamines in the brain. This can result in various neurological symptoms, including aggressive outbursts, impulsivity, and mood instability.

The Catalog provides detailed information on the frequency, inheritance pattern, and associated clinical features of Monoamine oxidase A deficiency. It also includes references to scientific articles and other resources for further learning.

For patients and their families, the Catalog serves as a centralized source of information and support. It provides a better understanding of the condition, its causes, and potential treatment options. Additionally, advocacy groups can utilize this resource to contribute to the development of additional resources and support networks.

Healthcare professionals can benefit from the Catalog to stay up-to-date with the latest research and clinical findings related to Monoamine oxidase A deficiency. The information provided can assist in accurate diagnosis and effective management of patients with this rare condition.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for individuals and organizations involved in the advocacy, research, and support of rare genetic conditions. It helps disseminate information, learn more about the condition, and contribute to the development of better resources and treatments.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about rare conditions such as Monoamine Oxidase A Deficiency. This rare deficiency is also known as Brunner syndrome or Monoamine oxidase A deficiency syndrome, which is caused by mutations in the MAOA gene. This genetic condition affects the production of the monoamine oxidase A enzyme in the brain, leading to a range of symptoms.

On PubMed, you can find a number of scientific articles and studies related to Monoamine Oxidase A Deficiency. These articles provide valuable information about the development of the condition, its frequency in the population, the genes involved, and additional associated symptoms or diseases.

One study published on PubMed titled “Monoamine oxidase A deficiency: a focus on the genetics and inheritance of the condition” delves into the inheritance pattern of Monoamine Oxidase A Deficiency, the genes implicated, and how mutations in the MAOA gene can contribute to the development of the condition.

Another article titled “Monoamine oxidase A deficiency syndrome: insights from patient advocacy and support groups” discusses how patient advocacy and support groups can provide more information and resources to individuals and families affected by this rare condition.

PubMed also provides access to scientific articles that explore the impact of Monoamine Oxidase A Deficiency on brain function and the breakdown of monoamines. For example, a study titled “The role of monoamines and their break down in Monoamine Oxidase A deficiency syndrome” sheds light on how the imbalance of these neurotransmitters can lead to symptoms such as outbursts of aggression and violent behavior.

Furthermore, PubMed allows you to explore other related conditions or syndromes that may be associated with Monoamine Oxidase A Deficiency. One example is an article titled “Associated conditions with Monoamine Oxidase A deficiency: a catalog of rare diseases” which provides information about rare diseases and syndromes that may share some genetic or biochemical similarities with this condition.

Overall, PubMed is a valuable resource for individuals and researchers alike to learn more about Monoamine Oxidase A Deficiency. It provides a wide range of scientific articles, references, and additional resources that contribute to a better understanding of this rare genetic condition.

References