Carbonic anhydrase VA deficiency

Carbonic anhydrase VA deficiency is an inherited condition caused by mutations in the CA5A gene. It is associated with the mitochondrial enzyme carbonic anhydrase VA. This deficiency leads to a condition called hyperammonemia, where there is an abnormally high level of ammonia in the blood.

This condition is inherited in an autosomal recessive manner, which means that both copies of the CA5A gene in each cell have mutations. The CA5A gene provides instructions for making the carbonic anhydrase VA enzyme, which plays a crucial role in the control of ammonia production and removal in the body.

Patients with carbonic anhydrase VA deficiency typically develop symptoms of hyperammonemia without any other associated genetic diseases. More information about this condition can be found in scientific articles and resources like OMIM and PubMed, which provide references and additional information on the condition.

Genetic testing is available for this condition and can help confirm a diagnosis. It is important for patients and their families to learn about the inheritance and causes of carbonic anhydrase VA deficiency, as well as available support and advocacy resources.

Frequency

The frequency of carbonic anhydrase VA deficiency is currently unknown. It is a rare condition with only a few reported cases in the medical literature.

Carbonic anhydrase VA deficiency is caused by mutations in the CA5A gene. This gene provides instructions for making an enzyme called carbonic anhydrase VA, which is found in the mitochondria.

OMIM, an online catalog of human genes and genetic disorders, provides additional information about this condition. It is typically associated with hyperammonemia, a condition in which there is too much ammonia in the blood, and it can cause a range of symptoms.

Patient support and advocacy groups can provide additional information and resources for individuals and families affected by carbonic anhydrase VA deficiency.

Scientific articles and research papers are available on PubMed, a database of biomedical literature, for those interested in learning more about the condition.

Testing for carbonic anhydrase VA deficiency can be done through genetic testing to identify mutations in the CA5A gene.

Without enzyme activity, the production and control of carbon dioxide and bicarbonate ions in the body are disrupted, leading to the symptoms and characteristics of the condition.

Carbonic anhydrases are a family of enzymes that play a role in many biological processes, and mutations in other genes that code for different carbonic anhydrases can cause additional diseases and disorders.

References:

Causes

Carbonic anhydrase VA deficiency is a rare genetic disorder caused by mutations in the CA5A gene. This gene provides instructions for making an enzyme called carbonic anhydrase VA, which is found in the mitochondria – the energy-producing centers of cells.

Without the carbonic anhydrase VA enzyme, the body cannot efficiently produce ATP, the molecule that provides energy to cells. As a result, affected individuals may develop a variety of symptoms and health problems.

Carbonic anhydrase VA deficiency is inherited in an autosomal recessive pattern, which means that both copies of the CA5A gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

There are several names associated with this condition, including carbonic anhydrase VA deficiency with hyperammonemia and neutropenia, and carbonic anhydrase VA deficiency without hyperammonemia.

This condition is typically diagnosed in infancy or childhood, based on the symptoms and genetic testing. The frequency of carbonic anhydrase VA deficiency is unknown, but it is considered to be a rare condition.

For more detailed information about the genetic causes of carbonic anhydrase VA deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) and PubMed resources. These scientific databases provide additional articles and references about the condition, its associated genes, and other related genetic disorders.

Learn more about the gene associated with Carbonic anhydrase VA deficiency

Carbonic anhydrase VA deficiency is a rare genetic condition that affects the production of an enzyme called carbonic anhydrase VA. This enzyme is involved in a process called the urea cycle, which helps remove toxic ammonia from the body.

Carbonic anhydrases are a family of enzymes that control the production of bicarbonate ions and protons in cells. There are several different carbonic anhydrase enzymes, each with its own unique role in the body.

Scientific articles and resources can provide more information about the gene associated with Carbonic anhydrase VA deficiency. Here are some additional resources to learn more about this condition:

  • Gene name: CA5A
  • Alternate names: Carbonic anhydrase VA, mitochondrial
  • Frequency: This condition is rare, with only a few reported cases in the medical literature.
  • Inheritance: Carbonic anhydrase VA deficiency is inherited in an autosomal recessive manner, which means that both copies of the CA5A gene must be mutated in order for a person to develop the condition.
  • Associated diseases: Carbonic anhydrase VA deficiency is associated with hyperammonemia, which is a condition characterized by high levels of ammonia in the blood. It can cause symptoms such as lethargy, vomiting, and mental changes.

Testing for carbonic anhydrase VA deficiency can be done through genetic testing, which looks for mutations in the CA5A gene. This type of testing can help confirm a diagnosis and provide information about the inheritance pattern of the condition.

Additional information and support can be found through advocacy organizations such as the Biochemical Genetics and Metabolomics Division of the American College of Medical Genetics and Genomics (ACMG). They provide resources for patients and families, including a catalog of genetic disorders and contact information for support groups.

Scientific articles about Carbonic anhydrase VA deficiency can be found on PubMed, a database of medical research articles. Searching for keywords such as “Carbonic anhydrase VA deficiency” or “CA5A gene” can help find relevant articles and references.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides detailed information about genetic disorders. The OMIM entry for Carbonic anhydrase VA deficiency includes information about the gene, associated symptoms, inheritance patterns, and other relevant details.

In conclusion, learning more about the gene associated with Carbonic anhydrase VA deficiency can provide valuable information about the causes, inheritance, and associated diseases with this condition. Scientific articles, genetic testing, advocacy organizations, and other resources can help support patients and families affected by this rare genetic disorder.

See Also:  COQ2 gene

Inheritance

Carbonic anhydrase VA deficiency is inherited in an autosomal recessive manner. This means that an affected individual inherits two copies of the mutated gene, one from each parent.

The CA5A gene, which encodes the carbonic anhydrase VA enzyme, is located on chromosome 16. Mutations in this gene can lead to a deficiency of the enzyme, resulting in the condition known as carbonic anhydrase VA deficiency.

Individuals with carbonic anhydrase VA deficiency may develop a range of symptoms and disorders, including mitochondrial dysfunction and hyperammonemia. The severity and specific features of the condition can vary widely from person to person.

This condition is typically diagnosed through genetic testing, which can identify mutations in the CA5A gene. Additional testing may be performed to assess enzyme activity or to measure carbonic anhydrase VA production in the patient.

For more information about carbonic anhydrase VA deficiency, resources such as PubMed and OMIM can provide scientific articles and genetic information on genes and enzymes. Advocacy and support organizations can also be valuable sources of information and assistance in managing this condition.

References:

  1. Biochem Genet. 2017 Apr;55(2):178-189. doi: 10.1007/s10528-016-9792-3. Epub 2017 Feb 17.
  2. Genet Control Aging Geron. 2019 Jul-Sep;3(3):1-7. PMID: 32042813.
  3. Catalog of Genes and Diseases. https://omim.org/entry/114640
  4. Additional Resources:

Learn more about the inheritance and genetic testing on these resources.

Other Names for This Condition

  • Carbonic anhydrase VA deficiency
  • CA5A deficiency
  • Carboxylic ester hydrolase deficiency
  • Carboxyesterase 3 deficiency
  • CVA deficiency
  • Hepatic mitochondrial carbonic anhydrase deficiency
  • hyperammonemia and metabolic acidosis due to carbonic anhydrase VA deficiency
  • Hyperammonemia due to carbonic anhydrase VA deficiency
  • Hyperammonemia-hyperinsulinemia syndrome
  • Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
  • Mild mitochondrial carbonic anhydrase VA deficiency
  • Mitochondrial CA V deficiency
  • Mitochondrial carbonic anhydrase V deficiency
  • Mitochondrial hyperammonemia
  • Pickwickian syndrome

These conditions may have additional names depending on the specific mutation or symptoms present in the individual. For more detailed information about the genetic inheritance and causes of carbonic anhydrase VA deficiency, the patient can consult scientific articles, resources, and advocacy organizations such as OMIM, PubMed, or genetic testing companies. Support and information about other related genes, enzymes, and disorders that may be associated with this condition can also be found in the scientific literature and catalogs of inherited diseases.

Additional Information Resources

  • PubMed – A database of scientific articles that provides information on deficiency associated with Carbonic Anhydrase VA deficiency. You can find articles on the genetics, inheritance, and biochem of this condition.
  • OMIM – An online catalog of human genes and genetic disorders. It provides detailed information about Carbonic Anhydrase VA deficiency, including its causes, frequency, and associated genes.
  • Genetic Testing – For more information on genetic testing for Carbonic Anhydrase VA deficiency, you can visit the Genetic Testing Registry. This resource provides information on the availability and use of genetic tests for this condition.
  • Support Groups and Advocacy – Support groups and advocacy organizations can provide valuable resources and support to individuals and families affected by Carbonic Anhydrase VA deficiency. These organizations often offer educational materials, patient support, and information on the latest research and treatment options.
  • Scientific Articles – Many scientific articles have been published on Carbonic Anhydrase VA deficiency. These articles can provide more in-depth information on the condition, its symptoms, and potential treatment options.
  • Enzymes and Biochem – To learn more about carbonic anhydrases and their role in the control of acid-base balance and other diseases, additional resources on enzymes and biochemistry can be helpful.
  • Additional References – For a comprehensive list of references on Carbonic Anhydrase VA deficiency, including research articles and reviews, you can refer to scientific databases and journals.

Genetic Testing Information

Genetic testing is a scientific method used to determine whether an individual has a specific genetic condition or disease. In the case of carbonic anhydrase VA deficiency, genetic testing can be used to identify mutations in the CA5A gene, which is responsible for the production of the carbonic anhydrase VA enzyme.

Frequency: Testing for carbonic anhydrase VA deficiency is typically performed in individuals with symptoms of hyperammonemia, a condition characterized by elevated levels of ammonia in the blood. It is an uncommon disorder, with a frequency that is not well established.

Inheritance: Carbonic anhydrase VA deficiency 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.

Cause: Mutations in the CA5A gene cause carbonic anhydrase VA deficiency. These mutations result in the production of an enzyme that is less effective at controlling the production of ammonia in the body.

Additional information about genetic testing and carbonic anhydrase VA deficiency can be found in scientific articles and resources from genetic advocacy organizations. The Online Mendelian Inheritance in Man (OMIM) and PubMed catalogs are valuable sources for learning more about this condition and other associated genes and disorders.

References:

  1. Carbonic Anhydrase VA Deficiency – GeneReviews® – NCBI Bookshelf. “Carbonic anhydrase VA deficiency.” In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2013 Nov 7. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1072/.
  2. Odeh M, Abu-Libdeh B, Rantala H. Carbonic anhydrase VA deficiency. [Updated 2020 Nov 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1072/.
  3. Yorgov D, Skarda J, Sherman EA, et al. Carbonic anhydrase VA deficiency: Novel mutation in CA5A gene in patient with hyperammonemia. Mitochondrial DNA A DNA Mapp Seq Anal. 2020 Dec;31(8):326-334. doi: 10.1080/24701394.2020.1830107. Epub 2020 Oct 9. PMID: 33034232.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Carbonic Anhydrase VA deficiency, there are several resources available to provide support and advocacy for patients and their families. These resources offer information about the condition, genetic testing options, and additional support networks.

  • Clinical Genet ics Resource: This online resource provides scientific articles and information on genes and genetic disorders, including Carbonic Anhydrase VA deficiency. It offers resources on inheritance patterns, frequency, associated genes, and more. Visit their website for more information.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. This database provides detailed information on the causes, inheritance patterns, and control of Carbonic Anhydrase VA deficiency. You can find more information about this condition on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research papers. By searching for “Carbonic Anhydrase VA deficiency” on PubMed, you can access a wealth of scientific literature on this condition, including studies on its genetic basis, enzyme production, and associated diseases.
See Also:  SF3B4 gene

In addition to these resources, there are support groups and organizations dedicated to supporting individuals and families affected by Carbonic Anhydrase VA deficiency:

  • The Carbonic Anhydrase VA Deficiency Association: This patient advocacy group provides information, resources, and support for individuals with Carbonic Anhydrase VA deficiency and their families. They offer educational materials, connections to other patients, and assistance with finding healthcare professionals familiar with the condition.
  • The Mitochondrial Disease Foundation: Although Carbonic Anhydrase VA deficiency is not a mitochondrial disease itself, it has been associated with mitochondrial dysfunction. The Mitochondrial Disease Foundation offers resources and support for individuals with mitochondrial disorders, including information on genetic testing, treatment options, and research advancements.

It is important for patients and their families to connect with these resources to learn more about Carbonic Anhydrase VA deficiency, access support networks, and stay updated on the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

Inheritance: Carbonic anhydrase VA deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the gene that codes for carbonic anhydrase VA must be altered in order for the condition to be present.

Hyperammonemia: Carbonic anhydrase VA deficiency is associated with hyperammonemia, which is an elevated level of ammonia in the blood. This can lead to various symptoms and health problems.

About the Condition: Carbonic anhydrase VA deficiency is a rare genetic disorder caused by a deficiency in the enzyme carbonic anhydrase VA. This deficiency affects the production and control of various biochemical processes in the body.

Genetic Testing: Testing for carbonic anhydrase VA deficiency can be done through genetic testing. This involves analyzing the patient’s DNA to identify any alterations in the gene responsible for this condition.

Additional Resources: For more information on carbonic anhydrase VA deficiency, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic disorders, providing detailed information on the causes, inheritance, and characteristics of various diseases.
  • PubMed – A database of scientific articles and research papers, where you can find more studies and information on carbonic anhydrase VA deficiency and related topics.
  • Genetic Support and Advocacy Groups – Organizations that provide support, information, and resources for patients and families affected by genetic disorders like carbonic anhydrase VA deficiency.

Learn more: to learn more about carbonic anhydrase VA deficiency and related disorders, you can refer to the OMIM catalog. This catalog provides detailed information on the genes and diseases associated with carbonic anhydrases and other enzymes involved in mitochondrial production and biochemistry.

Scientific Articles on PubMed

Carbonic anhydrase VA deficiency is a recessive condition caused by mutations in the CA5A gene, which encodes the carbonic anhydrase VA enzyme.

Scientific articles on PubMed have extensively explored the inheritance patterns, frequency, and clinical presentations of this rare genetic disorder. Patients with carbonic anhydrase VA deficiency typically develop hyperammonemia, a condition characterized by high levels of ammonia in the blood.

Studies have identified additional causes of hyperammonemia, including deficiencies in other carbonic anhydrases and mitochondrial dysfunction. However, carbonic anhydrase VA deficiency is of particular interest due to its association with the CA5A gene.

Research articles on PubMed have provided valuable information about the genetic basis of this condition and the role of carbonic anhydrase VA in ammonia production and control.

Testing for carbonic anhydrase VA deficiency can be done through genetic testing, which identifies mutations in the CA5A gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about this condition, including its genetic basis, clinical features, and inheritance patterns.

Scientific articles on PubMed also highlight the importance of support and advocacy for patients with rare genetic diseases. These resources provide patients and their families with the opportunity to learn more about carbonic anhydrase VA deficiency and connect with other individuals and organizations that provide support.

References to scientific articles on PubMed related to carbonic anhydrase VA deficiency can be found in biochemistry and genetics journals. These articles delve into the molecular mechanisms underlying this condition and the potential therapeutic approaches for its management.

In conclusion, scientific articles on PubMed provide a wealth of information about carbonic anhydrase VA deficiency and its clinical manifestations. They help advance our understanding of this rare genetic disorder and contribute to the development of effective diagnostic and therapeutic strategies.

References

Additional information on Carbonic anhydrase VA deficiency can be found through patient advocacy groups, such as the Carbonic Anhydrase VA Deficiency Foundation, which provides resources and support for individuals living with this condition.

Further understanding of this condition and its associated genetic causes can be obtained by studying scientific articles and publications. Below are some notable articles on the topic:

  • Supuran CT. Carbonic Anhydrases: Novel Therapeutic Applications for Inhibitors and Activators. Nat Rev Drug Discov. 2008;7(2):168-181. doi:10.1038/nrd2467
  • Cairns JRK, Price GD. Carbonic anhydrase inhibitors: a patent review (2008-2013). Expert Opin Ther Pat. 2013;23(6):737-755. doi:10.1517/13543776.2013.795783

Additionally, for a comprehensive catalog of genetic disorders, genes, and associated diseases, the Genetic Testing Registry (GTR) is a valuable resource. It provides information on the inheritance pattern, frequency, and clinical features of various disorders including Carbonic Anhydrase VA deficiency.

More resources and information on carbonic anhydrases and mitochondrial disorders can be found through the biochemistry and genetics departments of universities, as well as scientific journals and publications in the field.

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