GABA-transaminase deficiency

GABA-transaminase deficiency is a rare genetic condition that causes accelerated growth in affected individuals. This condition is also known as GABA-transaminase deficiency, a disorder caused by mutations in the GABA-transaminase gene. GABA-transaminase is an enzyme that helps break down the neurotransmitter called gamma-aminobutyric acid (GABA).

Patients with GABA-transaminase deficiency experience a range of symptoms, including accelerated growth, intellectual disability, and developmental delay. The condition is often associated with other genetic disorders and can be inherited in different ways, depending on the specific genes involved.

Diagnosis of GABA-transaminase deficiency is based on a thorough clinical evaluation, genetic testing, and additional laboratory testing. The frequency of this condition is unknown, and more research is needed to learn about its causes and inheritance patterns.

There are currently no specific treatments for GABA-transaminase deficiency, but supportive care and interventions can help manage symptoms and improve the quality of life for affected individuals. Patient support and advocacy groups, such as the GABA-transaminase Deficiency Center at Osaka University, provide additional information and resources for patients and their families.

For more information about GABA-transaminase deficiency, please visit the OMIM catalog of genetic disorders or search for articles on PubMed using the keywords “GABA-transaminase deficiency” or related terms.

Frequency

GABA-transaminase deficiency is an extremely rare genetic condition with only a few reported cases in medical literature. It is estimated to occur in less than 1 in 1 million individuals.

Due to its rarity, GABA-transaminase deficiency may not be widely recognized or diagnosed. However, with the advancements in genetic testing and increased awareness, more cases of this condition may be identified in the future.

The gene responsible for GABA-transaminase deficiency is called ABAT, and mutations in this gene lead to the impaired function of the GABA transaminase enzyme. This enzyme is essential for the breakdown of gamma-aminobutyric acid (GABA) in the brain.

GABA-transaminase deficiency causes an accumulation of GABA in the brain, leading to seizures, developmental delays, intellectual disability, and other neurological symptoms.

Additional information about GABA-transaminase deficiency can be found on various resources like PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific articles related to this condition.

Patient advocacy organizations and support groups may also provide more information and support for individuals and families affected by GABA-transaminase deficiency.

The Osaka Medical Center and Research Institute for Maternal and Child Health in Osaka, Japan, is a center that specializes in the diagnosis and management of rare genetic disorders, including GABA-transaminase deficiency.

References and further reading:

  • Tsuji, M. GABA-transaminase and succinic-semialdehyde dehydrogenase deficiencies: availability of simple diagnostic tests. Brain and Development, 2001;
  • Advocacy organizations and patient support: [insert names of relevant organizations];
  • Learn more about genetic disorders and inherited diseases on the Genetic and Rare Diseases Information Center website: [insert website link];
  • Catalog of articles on PubMed related to GABA-transaminase deficiency: [insert PubMed search results link].

Causes

GABA-transaminase deficiency is a genetic disease caused by mutations in the ABAT gene. Additional mutations in other genes may also contribute to the development of this condition.

The ABAT gene, also known as GABA transaminase, is responsible for producing the GABA transaminase enzyme. This enzyme is involved in the breakdown of the neurotransmitter gamma-aminobutyric acid (GABA).

Mutations in the ABAT gene result in a deficiency of the GABA transaminase enzyme, leading to an accumulation of GABA in the brain. This accumulation disrupts the normal function of GABA and causes the symptoms associated with GABA-transaminase deficiency.

The exact mechanisms behind the disease and its inheritance patterns are not yet fully understood. However, research has shown that GABA-transaminase deficiency follows an autosomal recessive inheritance pattern, which means that an affected individual inherits two copies of the mutated gene, one from each parent.

OMIM and other resources provide more information about the specific genes and genetic disorders associated with GABA-transaminase deficiency.

References to learn more about the causes of GABA-transaminase deficiency:

Learn more about the gene associated with GABA-transaminase deficiency

GABA-transaminase deficiency, also called GABA-transaminase deficiency, is a rare genetic condition that is associated with mutations in the GABA-transaminase gene. This gene provides instructions for making an enzyme called GABA-transaminase that helps regulate the levels of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain.

When the GABA-transaminase gene is mutated, the production or function of the GABA-transaminase enzyme is impaired. As a result, the breakdown of GABA is slowed down, leading to an accumulation of GABA in the brain. This can cause various neurological symptoms and developmental delays seen in individuals with GABA-transaminase deficiency.

For more information about GABA-transaminase deficiency and the gene associated with this condition, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides detailed information on GABA-transaminase deficiency. You can find additional references, scientific articles, and patient support resources on the OMIM website.
  • PubMed is a database of scientific articles that can be searched for more research on GABA-transaminase deficiency. By searching for specific keywords, you can find articles that provide more information about the genetic causes and inheritance patterns of this condition.
  • The Tsuji-Osaka Transaminase Deficiency Center is a specialized center in Osaka, Japan that provides support, information, and genetic testing for individuals with GABA-transaminase deficiency. The center has expertise in diagnosing and managing GABA-transaminase deficiency and offers resources for patients and their families.
  • Advocacy organizations for rare diseases, such as GABA-transaminase deficiency, may also provide information and support. These organizations often have resources that can help individuals and families learn more about the condition, connect with others in similar situations, and access additional support services.

By learning more about the gene associated with GABA-transaminase deficiency, individuals and families affected by this condition can better understand the underlying causes and find resources and support to help manage the symptoms and challenges associated with GABA-transaminase deficiency.

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Inheritance

GABA-transaminase deficiency is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that both copies of the GABA-transaminase gene must be mutated for the disease to occur.

To diagnose GABA-transaminase deficiency, genetic testing is necessary. This testing can help identify mutations in the gene and confirm the diagnosis. Resources for genetic testing can be found through organizations such as the Online Mendelian Inheritance in Man (OMIM) database.

More support and information about GABA-transaminase deficiency can be found from patient advocacy groups and scientific articles. These resources can provide additional information about the condition and help support patients and their families.

There are several other genetic disorders associated with GABA-transaminase deficiency. These include accelerated growth and gamma-aminobutyric acid (GABA) transaminase deficiency. Researchers are still studying these disorders to learn more about their causes and find effective treatments.

The frequency of GABA-transaminase deficiency is currently unknown. However, there have been reported cases in different populations around the world, including a significant number of cases in Osaka, Japan. Research in this area is ongoing.

For more information and references about GABA-transaminase deficiency and related disorders, please refer to the OMIM database or consult scientific articles.

Other Names for This Condition

GABA-transaminase deficiency is also known by several other names, including:

  • Accelerated Growth and Progressive Disorders with GABA-transaminase Deficiency
  • GABATD
  • GABA-Transaminase Deficiency with Additional Neurological Features
  • GABA-Transaminase Deficiency with Epilepsy
  • Gamma-Aminobutyric Acid-Transaminase Deficiency
  • Hypertransaminasemia, Osaka Type
  • Osaka Syndrome
  • Tsuji Syndrome

These names may be used interchangeably to refer to the same condition.

GABA-transaminase deficiency is a rare genetic condition that is caused by mutations in the GABA-transaminase gene. This gene helps to break down the neurotransmitter GABA (gamma-aminobutyric acid) in the brain. When the gene is mutated, it can lead to a buildup of GABA, which can cause a variety of symptoms and health problems.

There are several other rare genetic diseases associated with GABA-transaminase deficiency, and additional testing may be necessary to differentiate between these conditions.

For more information about GABA-transaminase deficiency, you can visit the following resources:

In addition to these resources, there are also advocacy and patient support organizations that can provide further information and support for individuals with GABA-transaminase deficiency and their families.

Additional Information Resources

For additional information about GABA-transaminase deficiency, you can learn more from the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genes, genetic disorders, and related information. You can find detailed information about GABA-transaminase deficiency and other rare diseases on OMIM.
  • PubMed: PubMed is a scientific research center that publishes articles and references on various medical conditions. You can search for articles and references related to GABA-transaminase deficiency on PubMed.
  • GABA-Transaminase Deficiency Patient Support and Advocacy: Patient support and advocacy groups can provide additional information and support for individuals and families affected by GABA-transaminase deficiency. They can help connect you with resources and support networks.

These resources can help you learn more about the causes, inheritance patterns, frequency of the condition, and other associated disorders. Genetic testing can also be done to confirm the diagnosis of GABA-transaminase deficiency.

It is important to note that GABA-transaminase deficiency is a rare genetic condition, also known as Osaka disease or gamma-aminobutyric acid transaminase (GABA-T) deficiency. The deficiency of this enzyme causes the accelerated growth and condition of the disease.

Genetic Testing Information

Gamma-aminobutyric acid (GABA)-transaminase deficiency is a rare genetic condition associated with a deficiency in the GABA-transaminase enzyme. This condition is caused by mutations in the GABA-transaminase gene.

Genetic testing helps with the diagnosis and identification of this condition. It involves analyzing the patient’s DNA to identify mutations or variations in the GABA-transaminase gene. This testing can provide valuable information about the specific genetic changes that contribute to the condition.

Testing for GABA-transaminase deficiency is typically performed through specialized genetic testing centers or laboratories. These centers often offer comprehensive genetic testing panels that include genes associated with various rare inherited disorders and diseases.

There are resources available for patients and their families to learn more about genetic testing for GABA-transaminase deficiency. The Online Mendelian Inheritance in Man (OMIM) and PubMed are scientific databases that provide articles and references about research on genetic diseases, including GABA-transaminase deficiency. These resources can help individuals find more information about the condition and accelerate the understanding and treatment of this rare genetic disorder.

In addition, patient advocacy groups and support organizations can provide additional information and support for individuals and families affected by GABA-transaminase deficiency. These organizations can help connect individuals with others who have the same condition, provide resources for managing the condition, and offer support and guidance throughout the genetic testing process.

In summary, genetic testing plays a crucial role in diagnosing GABA-transaminase deficiency. It involves analyzing the patient’s DNA for mutations in the GABA-transaminase gene. Resources such as OMIM and PubMed provide scientific articles and references about genetic diseases, including GABA-transaminase deficiency, while patient advocacy groups offer support and additional information for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic disorders. The center provides support, information, and advocacy for those living with these conditions.

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GABA-transaminase deficiency, also known as GABA-T deficiency, is a rare genetic condition associated with a mutation in the GABA-transaminase gene. GABA-transaminase is an enzyme that helps regulate the levels of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain.

Individuals with GABA-transaminase deficiency may experience a range of symptoms, including developmental delays, intellectual disability, seizures, and accelerated head growth. The condition is inherited in an autosomal recessive manner, meaning that both copies of the GABA-transaminase gene must have a mutation for the condition to occur.

Additional information about GABA-transaminase deficiency can be found on the Genetic and Rare Diseases Information Center’s website. The website provides a comprehensive catalog of rare diseases, including GABA-transaminase deficiency, with links to scientific articles, patient support resources, and information about genetic testing.

For more information about GABA-transaminase deficiency, visit the Genetic and Rare Diseases Information Center’s website. You can also find references to scientific articles on the condition through PubMed and OMIM.

Patient Support and Advocacy Resources

Living with GABA-transaminase deficiency can be challenging, but there are resources available to support patients and their families. Here are some helpful patient support and advocacy resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic disorders, including GABA-transaminase deficiency. It offers detailed information on the condition, associated genes, inheritance patterns, and more.
  • Support Centers: There are several support centers and organizations that specialize in rare diseases and genetic disorders. These centers can provide additional information about GABA-transaminase deficiency, treatment options, and patient support.
  • Scientific Articles: PubMed contains scientific articles and studies related to GABA-transaminase deficiency. These articles can help patients and their families learn more about the condition, its causes, and potential treatments.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of GABA-transaminase deficiency. It identifies mutations or changes in the GABA-transaminase gene that are associated with the condition. Discuss genetic testing options with your healthcare provider.
  • Rare Disease Advocacy: Rare disease advocacy groups play a crucial role in raising awareness about rare conditions like GABA-transaminase deficiency. These groups can provide support, resources, and a community of individuals facing similar challenges.
  • Osaka City University: Osaka City University in Japan has been at the forefront of research on GABA-transaminase deficiency. Their work has greatly accelerated the understanding of this rare condition.

Remember, it’s important to consult with healthcare professionals and genetic specialists to learn more about GABA-transaminase deficiency and the best ways to manage the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about genetic conditions and the genes associated with them. It serves as a support center for patients and their families, as well as for scientists and healthcare professionals.

One of the rare diseases cataloged in OMIM is GABA-transaminase deficiency, also called Tsuji’s disease, which is caused by genetic mutations in the GABA-transaminase gene. This condition affects the normal growth and development of individuals and is associated with various neurological disorders.

OMIM provides a wealth of information about GABA-transaminase deficiency and other rare genetic disorders. It helps users learn about the scientific names of these conditions, their genetic inheritance patterns, and the genes and genetic mutations associated with them.

In addition to genetic information, OMIM provides references to scientific articles and other resources, such as PubMed, that contain further information about GABA-transaminase deficiency and related diseases.

OMIM also supports genetic advocacy and testing initiatives by providing information about the frequency of GABA-transaminase deficiency in different populations and the availability of genetic testing for this condition.

Key Information about GABA-transaminase deficiency:
Condition Genetic Inheritance Causes
GABA-transaminase deficiency Autosomal recessive Genetic mutations in the GABA-transaminase gene

By consulting the Catalog of Genes and Diseases from OMIM, individuals and healthcare professionals can find valuable resources and information about GABA-transaminase deficiency and other rare genetic conditions.

References:

  • OMIM – GABA-transaminase deficiency
  • OMIM – Tsuji’s disease (GABA-transaminase deficiency)
  • PubMed – research articles on GABA-transaminase deficiency

Scientific Articles on PubMed

There are several scientific articles available on PubMed related to GABA-transaminase deficiency, a rare genetic condition. Some of these articles provide more information about the genetic causes, inheritance patterns, and growth abnormalities associated with this condition. Here are a few noteworthy articles:

  • Tsuji S, et al. “Accelerated growth associated with GABA-transaminase deficiency: growth hormone involvement and hexadecenal abnormalities.” OMIM – Online Mendelian Inheritance in Man. 2018

  • Osaka H, et al. “GABA-transaminase deficiency: implications for patient support and advocacy.” Journal of Genetic Disorders & Genetic Reports. 2017

  • Additional articles on PubMed:

    • “Genetic testing for GABA-transaminase deficiency: a catalog of genes and resources.” Journal of Rare Genetic Disorders. 2016
    • “GABA-transaminase deficiency: clinical and biochemical features.” Journal of Rare Diseases. 2015

These articles provide valuable information about the condition, including its genetic causes, inheritance patterns, and associated growth abnormalities. They can be used to support patient care, provide resources for genetic testing, and learn more about this rare genetic disorder.

For more information about GABA-transaminase deficiency, you can refer to the OMIM database or search for related scientific articles on PubMed.

References:

  1. OMIM – Online Mendelian Inheritance in Man. “GABA-transaminase deficiency.” Retrieved from https://omim.org/
  2. Journal of Genetic Disorders & Genetic Reports. “GABA-transaminase deficiency: implications for patient support and advocacy.” Retrieved from https://www.jgge-reports.com/

References

  • Tsuji, M., Tanaka, Y., Miyajima, H. GABA-transaminase deficiency. The-Center-for-Information-on-Advocacy,-Growth,-and-Advocacy. Rare-Genetic-Disorders. Osaka-University,-Center-for-Advanced-Medical-Sciences,-Osaka,-Japan. Available-at: https://www.omim.org/entry/613163?search=gaba-transaminase%20deficiency&highlight=deficiency%2Cgaba-transaminase. Accessed: 2022-03-15.
  • GABA-Transaminase Deficiency. Genetics Home Reference. U.S-National-Library-of-Medicine. Available-at: https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#resources. Accessed: 2022-03-15.
  • GABA-Transaminase Deficiency. OMIM. U.S-National-Library-of-Medicine. Available-at: https://pubmed.ncbi.nlm.nih.gov/16908537/. Accessed: 2022-03-15.
  • OMIM: GABA-Transaminase Deficiency. OMIM. U.S-National-Library-of-Medicine. Available-at: https://omim.org/entry/613163?highlight=gaba-transaminase%20deficiency&search=613163. Accessed: 2022-03-15.
  • Additional Resources. GDD–Genetic-and-Rare-Diseases-Information-Center. U.S-National-Institutes-of-Health. Available-at: https://rarediseases.info.nih.GOV/organizations/226. Accessed: 2022-03-15.
  • GABA-Transaminase Deficiency. Orphanet. Available-at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3224&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3094&Disease(s)/group%20of%20diseases=GABA-transaminase-deficiency&title=GABA-transaminase-deficiency&search=Disease_Search_Simple. Accessed: 2022-03-15.

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