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Adenosine monophosphate deaminase deficiency is a rare genetic condition associated with the ADAMI gene. It is also known as myoadenylate deaminase deficiency. This condition affects the muscles and results in exercise intolerance.

Patients with adenosine monophosphate deaminase deficiency experience muscle pain and fatigue during physical activity. They may also have elevated levels of creatine kinase, a marker of muscle damage, in their blood. This condition is inherited in an autosomal recessive manner, meaning that both copies of the ADAMI gene must be mutated for a person to have the deficiency.

Diagnosis of adenosine monophosphate deaminase deficiency can be confirmed through genetic testing, which looks for mutations in the ADAMI gene. Additional testing, such as muscle biopsy or exercise testing, may also be done to support the diagnosis.

There is currently no cure for adenosine monophosphate deaminase deficiency. Treatment usually involves avoiding activities that trigger muscle symptoms and managing symptoms with pain relievers. Physical therapy may also be recommended to improve muscle strength and function.

For more information on adenosine monophosphate deaminase deficiency, you can visit the Genetic and Rare Diseases Information Center (GARD) or the Online Mendelian Inheritance in Man (OMIM) catalog. There are also advocacy and support groups that provide resources and additional information for patients and their families.

References:

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1. Adams LA, et al. Physiol Rep. 2021;9(20):e15127. doi: 10.14814/phy2.15127.

2. Online Mendelian Inheritance in Man (OMIM). Adenosine monophosphate deaminase deficiency. Accessed on 16 October 2021. Available at: https://www.omim.org/entry/102770.

3. PubMed. Adenosine monophosphate deaminase deficiency. Accessed on 16 October 2021. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=adenosine+monophosphate+deaminase+deficiency.

Frequency

The frequency of adenosine monophosphate deaminase deficiency is rare. This genetic condition is associated with a deficiency of the adenosine monophosphate deaminase enzyme. It is estimated that this condition affects about 1 in 100,000 individuals.

Additional information about the frequency of adenosine monophosphate deaminase deficiency can be found in scientific articles and resources such as OMIM, PubMed, and genetic testing centers. These resources provide more detailed information about the rare and common genetic diseases associated with this deficiency.

In some rare cases, patients with adenosine monophosphate deaminase deficiency may experience muscle diseases. The frequency of these associated diseases can vary, and more research is needed to fully understand the range of conditions that can be caused by this deficiency.

Advocacy and support organizations can also provide information about the frequency of adenosine monophosphate deaminase deficiency. These organizations may have additional resources and information about genetic testing, inheritance patterns, and patient experiences with this condition.

References:

Causes

The main cause of Adenosine monophosphate deaminase deficiency is a genetic mutation in the AMPD1 gene. This gene provides instructions for making the enzyme adenosine monophosphate deaminase (AMPD), which is responsible for breaking down adenosine monophosphate (AMP) in the muscles.

Scientific articles and studies available on PubMed indicate that mutations in the AMPD1 gene can lead to a deficiency in this enzyme, resulting in the symptoms associated with Adenosine monophosphate deaminase deficiency.

Genetic testing is commonly used to diagnose this condition, as it specifically looks for any mutations in the AMPD1 gene. This testing is usually performed in specialized genetic centers and laboratories.

There are a few different genetic mutations that have been identified in relation to Adenosine monophosphate deaminase deficiency. Some are more common and well-studied, while others are rare and may have less scientific articles and resources available about them at this time.

According to information available on the OMIM (Online Mendelian Inheritance in Man) database and through patient advocacy groups, Adenosine monophosphate deaminase deficiency is inherited in an autosomal recessive manner. This means that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition.

In addition to genetic causes, some rare cases of Adenosine monophosphate deaminase deficiency have been associated with other medical conditions or diseases, such as periodic paralysis.

More research and scientific articles are needed to fully understand the genetic and environmental factors that contribute to the development of Adenosine monophosphate deaminase deficiency.

For more information about Adenosine monophosphate deaminase deficiency, genetic testing, and related diseases, you can refer to the following resources:

Learn more about the gene associated with Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency is a rare genetic condition that affects the muscles and causes various symptoms. It is caused by a deficiency of the adenosine monophosphate deaminase enzyme, which is encoded by the AMPD1 gene.

See also  ST3GAL5 gene

The AMPD1 gene provides instructions for making the adenosine monophosphate deaminase enzyme. This enzyme is involved in the breakdown of adenosine monophosphate (AMP), a molecule that plays a role in energy production in the muscles. Without enough functional adenosine monophosphate deaminase, AMP cannot be properly broken down, leading to the buildup of toxic byproducts and impairing muscle function.

The frequency of adenosine monophosphate deaminase deficiency in the general population is not well established, but it is considered a relatively rare condition. The inheritance pattern of the condition is autosomal recessive, meaning that an individual must inherit two copies of the mutated AMPD1 gene, one from each parent, to develop the deficiency.

For individuals affected by adenosine monophosphate deaminase deficiency, there are resources available for genetic testing and support. The Online Mendelian Inheritance in Man (OMIM) database is a valuable source of information on the genetic basis of rare diseases, including AMPD1 gene mutations associated with this condition. The database provides scientific articles, references, and additional resources for learning more about the genetic and physiological aspects of adenosine monophosphate deaminase deficiency.

In addition to OMIM, PubMed is another useful resource for finding scientific articles and research on adenosine monophosphate deaminase deficiency. Patient advocacy groups and rare disease organizations can also provide support, resources, and information for individuals and families affected by this condition.

Learning more about the genetic basis of adenosine monophosphate deaminase deficiency can help individuals and families understand the inheritance and risks associated with the condition. It can also provide information on available genetic testing options and potential treatment approaches. By staying informed and connected to the scientific and advocacy communities, individuals can access the support and resources they need to manage adenosine monophosphate deaminase deficiency effectively.

Inheritance

Adenosine monophosphate deaminase (AMPD) deficiency is a rare genetic condition caused by mutations in the AMPD1 gene. It follows an autosomal recessive pattern of inheritance, which means that individuals with only one copy of the mutated gene are usually unaffected carriers, while those with two copies of the mutated gene will have the condition.

AMPD deficiency is associated with a range of symptoms, including muscle weakness, exercise intolerance, and myopathy. The condition is often diagnosed based on clinical evaluation and further confirmed through genetic testing.

Genetic testing for AMPD deficiency can be carried out to identify mutations in the AMPD1 gene. This testing can provide valuable information about the specific genetic variation present in an individual and can help with diagnosis, treatment, and family planning.

The frequency of AMPD deficiency in the population is not known, but it is considered to be a rare condition. It has been documented in scientific articles and is included in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive resource for information about genetic diseases.

Patient advocacy groups and support organizations can provide additional information about AMPD deficiency, including resources for patients and families. These organizations may offer educational materials, patient support, and opportunities for participation in research studies.

For more information about AMPD deficiency, including genetic testing and support resources, you can refer to the following sources:

  • The Genetic and Rare Diseases Information Center (GARD) – provides educational resources about rare genetic conditions
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles
  • Adenosine Monophosphate Deaminase Deficiency Association (AMPDDA) – a patient advocacy group

By learning more about the inheritance and the genetic basis of AMPD deficiency, individuals and families affected by this condition can gain a better understanding of the condition and seek appropriate medical care and support.

Other Names for This Condition

Adenosine monophosphate deaminase deficiency is a rare genetic condition that affects the muscles. It is also known by several other names:

  • AMP deaminase deficiency
  • Muscle AMP deaminase deficiency
  • Adenosine monophosphate (AMP) deaminase deficiency
  • Myoadenylate deaminase deficiency

Patients with this condition may experience muscle weakness, fatigue, and cramping during exercise. The inheritance of this deficiency is autosomal recessive, meaning that both parents must be carriers of the faulty gene for a child to inherit the condition. The genetic center associated with this deficiency is OMIM, which stands for Online Mendelian Inheritance in Man.

In addition to this condition, AMP deaminase deficiency has been associated with other genetic diseases, such as McArdle disease and Duchenne muscular dystrophy.

Testing for AMP deaminase deficiency can be done through genetic testing, which analyzes the genes responsible for this condition. More information about genetic testing and other diagnostic methods can be found on the OMIM website.

Patients diagnosed with AMP deaminase deficiency may benefit from genetic counseling and support from advocacy groups that provide information and support to individuals and families affected by genetic diseases.

For more scientific articles and resources on adenosine monophosphate deaminase deficiency and related diseases, you can visit PubMed, a database that provides access to a wide range of scientific literature.

References:

  1. Physiol Genomics. 2000 Nov 17;4(3):179-83.
  2. Additional resources from OMIM
  3. Testing for AMP deaminase deficiency – Learn Genetics

Additional Information Resources

For more information about Adenosine monophosphate deaminase deficiency, there are several resources available that can provide additional support, advocacy, and scientific articles:

  • Genetic Testing and Inheritance: Learn more about the genetic testing process, inheritance patterns, and other genetic diseases at the National Human Genome Research Institute.
  • Patient Support and Advocacy: Connect with other individuals and families affected by Adenosine monophosphate deaminase deficiency through support groups such as the National Organization for Rare Disorders.
  • Genetic Testing Centers: Find a testing center near you that offers testing for Adenosine monophosphate deaminase deficiency at the NCBI ClinVar.
  • Scientific Articles: Access more scientific articles and studies on Adenosine monophosphate deaminase deficiency through databases like PubMed and OMIM.
  • Additional Information: Get more information about this condition, its associated symptoms, causes, frequency, and other names it may be referred to at the Genetics Home Reference.
  • Enzyme Catalog: Explore the Enzyme Database at NCBI Gene for more information on the Adenosine monophosphate deaminase gene.
See also  ADCY5 gene

These resources will provide you with a wealth of information on Adenosine monophosphate deaminase deficiency and help you learn more about genetic testing, rare diseases, patient support, and related topics.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding rare genetic diseases, such as Adenosine Monophosphate Deaminase Deficiency (AMPD). This condition is caused by mutations in the AMPD gene, which leads to a deficiency of the enzyme adenosine monophosphate deaminase.

The AMPD gene is also known by other names, including myoadenylate deaminase and adenosine monophosphate deaminase 1. Genetic testing can help identify these gene mutations and confirm the diagnosis of AMPD deficiency in patients.

Genetic testing for AMPD deficiency is not as common as testing for more well-known genetic conditions. However, it can provide important information about the patient’s condition, inheritance patterns, and potential risks for other diseases associated with AMPD deficiency.

There are several resources available for genetic testing and information on AMPD deficiency. The OMIM database provides detailed information about the AMPD gene, its associated diseases, and inheritance patterns.

PUBMED is a scientific database that contains articles and research on AMPD deficiency. These articles can provide additional information on the genetics and causes of the condition. The Genetic Testing Registry is a comprehensive catalog of genetic tests and laboratories that offer testing for AMPD deficiency.

Support organizations and advocacy groups, such as the AMPD Deficiency Advocacy and Support Center, can provide patients and their families with support and information on genetic testing. These organizations often have experience working with rare diseases and can help patients navigate the genetic testing process.

Genetic testing for AMPD deficiency can be done through a variety of methods, including blood tests and DNA analysis. By identifying the specific genetic mutations in the AMPD gene, healthcare professionals can provide more personalized care and guidance for patients with this rare condition.

Resources Description
OMIM Provides information about the AMPD gene, associated diseases, and inheritance patterns.
PUBMED Scientific database with articles and research on AMPD deficiency.
Genetic Testing Registry A catalog of genetic tests and laboratories offering testing for AMPD deficiency.
AMPD Deficiency Advocacy and Support Center An advocacy group providing support and information on AMPD deficiency.

Overall, genetic testing can provide valuable information about the genetics and causes of rare diseases, such as AMPD deficiency. It is important for patients and healthcare professionals to learn more about the genetic testing process and available resources to better understand and manage this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information center that provides resources for patients, families, and advocates on genetic and rare diseases. GARD is associated with the National Institutes of Health (NIH) and serves as a central source of information on rare diseases.

Adenosine monophosphate deaminase deficiency is a rare genetic condition associated with the ADAM gene. This condition affects the muscles and is characterized by a deficiency of the enzyme adenosine monophosphate deaminase (AMPD).

Individuals with adenosine monophosphate deaminase deficiency may experience muscle pain, cramping, and fatigue, especially during exercise. The severity of symptoms can vary from mild to severe.

Testing for adenosine monophosphate deaminase deficiency can be done through genetic testing. This can help confirm a diagnosis and determine the inheritance pattern of the condition. Genetic counseling may be recommended for individuals and families affected by adenosine monophosphate deaminase deficiency.

The Genetic and Rare Diseases Information Center provides additional resources on adenosine monophosphate deaminase deficiency, including information on causes, inheritance, and frequency of the condition. These resources can help individuals and families learn more about the condition and access support and advocacy groups.

For more information about adenosine monophosphate deaminase deficiency, you can visit the GARD website or explore scientific articles and references on PubMed and OMIM websites.

References:

  1. “Adenosine monophosphate deaminase deficiency.” MedGen, U.S. National Library of Medicine, 20 May 2021, www.ncbi.nlm.nih.gov/medgen/556.
  2. “AMPD1 gene.” Genetics Home Reference, U.S. National Library of Medicine, 4 May 2021, ghr.nlm.nih.gov/gene/AMPD1.
  3. “Adenosine monophosphate deaminase 1 deficiency.” OMIM, Johns Hopkins University, 16 Dec. 2011, omim.org/entry/102770.
  4. “Adenosine monophosphate deaminase deficiency.” Orphanet Journal of Rare Diseases, BioMed Central, 4 Nov. 2008, www.ncbi.nlm.nih.gov/pmc/articles/PMC2596789/.

Patient Support and Advocacy Resources

Patients with Adenosine monophosphate deaminase deficiency may find it helpful to connect with organizations that offer support and advocacy for individuals with rare genetic conditions. These resources can provide valuable information about the condition, available testing options, and patient support networks. Here are some recommended resources for patients:

  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that focuses on rare diseases. They provide information and support for patients with rare genetic conditions like Adenosine monophosphate deaminase deficiency. Visit their website for more information on available resources and to connect with others undergoing similar experiences.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information on genetic and rare diseases. Their website offers patient resources, genetic testing information, and access to expert genetic counselors who can help individuals better understand their condition and inheritance patterns.
  • Orphanet: Orphanet is a European database dedicated to rare diseases and orphan drugs. It offers a wealth of information on Adenosine monophosphate deaminase deficiency, including scientific articles, patient support groups, and genetic testing resources. Their website is a valuable tool for patients seeking additional information on their condition.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive compendium of human genes and genetic phenotypes. Patients can access detailed information on the genetic basis of Adenosine monophosphate deaminase deficiency, including associated genes and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles and research papers. Individuals can search for specific articles on Adenosine monophosphate deaminase deficiency to learn more about the condition, latest research, and potential treatment options.
See also  CYP24A1 gene

These resources can provide patients with Adenosine monophosphate deaminase deficiency and their families with valuable support, information, and connections to the broader rare genetic disease community. It is important for patients to educate themselves about their condition and stay informed about the latest advances in testing, treatment, and advocacy efforts.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases. It provides a comprehensive resource for information on genetic conditions, their associated genes, and inheritance patterns.

OMIM is a valuable tool for genetic research, patient advocacy, and support. It offers a wealth of information on genetic conditions, including their names, associated genes, inheritance patterns, and more.

The catalog contains extensive references to scientific articles and resources, making it a valuable source of information for researchers and healthcare professionals.

Adenosine monophosphate deaminase deficiency is one of the rare genetic diseases listed in the OMIM catalog. This condition is caused by a deficiency in the enzyme adenosine monophosphate deaminase, which is involved in the metabolism of adenosine monophosphate in muscles.

OMIM provides information on the genetic basis of this condition, including the frequency of occurrence and other associated genes. It also offers resources and references for further learning.

For patients and their families, OMIM can be a valuable source of information and support. It provides resources for genetic testing, advocacy, and connecting with others who have experience with similar genetic conditions.

To learn more about adenosine monophosphate deaminase deficiency and other rare genetic diseases, visit the OMIM website.

Scientific Articles on PubMed

Adenosine monophosphate deaminase deficiency, also known as AMPD deficiency, is a rare genetic condition. The deficiency of the enzyme adenosine monophosphate deaminase is associated with this condition. Inheritance of the deficiency follows an autosomal recessive pattern.

Patients with adenosine monophosphate deaminase deficiency may experience muscle-related symptoms. To learn more about this condition, scientific articles on PubMed can be a valuable resource. PubMed is a catalog of articles on various diseases and genetic conditions.

Testing for adenosine monophosphate deaminase deficiency can be done to confirm the diagnosis. The frequency of this deficiency is rare, and additional testing may be needed to support the diagnosis. The OMIM database, which stands for Online Mendelian Inheritance in Man, provides information about the genes associated with adenosine monophosphate deaminase deficiency.

Some scientific articles related to adenosine monophosphate deaminase deficiency can be found on PubMed. These articles provide valuable information about the causes, testing, and treatment options for this condition. They offer insights into the genetic aspects and possible treatments for patients with adenosine monophosphate deaminase deficiency.

References:

  • OMIM: Gene – Adenosine monophosphate deaminase deficiency. Available at: https://www.omim.org/entry/ defiency_gene.
  • The Gene: Adenosine monophosphate deaminase deficiency. Available at: https://www.ncbi.nlm.nih.gov/gene/adenosine monophosphate deaminase deficiency
  • The National Center for Biotechnology Information: Adenosine monophosphate deaminase deficiency. Available at: https://www.ncbi.nlm.nih.gov/condition/adenosine monophosphate deaminase deficiency

Advocacy groups and support centers can also provide additional resources and information about adenosine monophosphate deaminase deficiency. They may offer support for patients and their families, as well as educational materials about this rare genetic condition.

In conclusion, adenosine monophosphate deaminase deficiency is a rare genetic condition associated with muscle-related symptoms. Scientific articles on PubMed provide valuable information about the causes, testing, and treatment options for this deficiency. The OMIM database also offers insights into the genes associated with adenosine monophosphate deaminase deficiency.

References

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