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The GAMT gene encodes the enzyme guanidinoacetate methyltransferase (GAMT), which is involved in the synthesis of creatine. Creatine is an important molecule for the production and storage of energy in the body. Changes in the GAMT gene can lead to a deficiency in the GAMT enzyme, resulting in a condition called GAMT deficiency.

GAMT deficiency is a rare genetic disorder that affects the production of creatine in the body. Without enough creatine, the body is unable to efficiently produce and store energy. This can lead to a variety of health problems, including intellectual disability, developmental delay, and seizures.

To diagnose GAMT deficiency, genetic tests can be performed to look for changes in the GAMT gene. This information can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional scientific articles, clinical information, and references related to this gene and its associated diseases.

The importance of testing for GAMT deficiency and other related genes lies in the potential to identify individuals who may benefit from early intervention or treatment. By identifying these individuals, healthcare providers can provide appropriate care and support to improve their quality of life.

Genetic changes in the GAMT gene can lead to various health conditions. This gene is of clinical importance as it provides instructions for making an enzyme called guanidinoacetate methyltransferase. Deficiency in this enzyme can cause a group of diseases known as GAMT deficiency diseases.

GAMT deficiency diseases affect the body’s ability to produce creatine, a molecule that is essential for providing energy to muscles and other tissues. Without enough creatine, individuals with GAMT deficiency may experience muscle weakness and intellectual disability.

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If someone suspected to have GAMT deficiency, genetic testing can be done to confirm the diagnosis. Genetic testing for this condition is available in specialized genet laboratories, as this is a rare condition.

The Genetic Testing Registry (GTR) is a valuable resource for finding information about specific genetic tests. Additional tests may be necessary to identify the specific genetic changes in the GAMT gene that are causing the condition. Scientific articles, databases such as OMIM, PubMed, and references provided by genet clinicians can provide more information about the specific variant of the gene and related health conditions.

In conclusion, genetic changes in the GAMT gene are associated with GAMT deficiency diseases. Testing from specialized genet laboratories can help diagnose this condition. Resources like the GTR, OMIM, PubMed, and references from genet clinicians can provide valuable information about specific genetic changes and related health conditions.

Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency is a genetic condition caused by mutations in the GAMT gene. This gene provides instructions for making the guanidinoacetate methyltransferase enzyme, which is involved in the metabolism of a molecule called guanidinoacetate. This molecule is needed for the production of creatine, an important molecule for energy production in the muscles.

Individuals with guanidinoacetate methyltransferase deficiency have a deficiency of the enzyme, which leads to a buildup of guanidinoacetate and a decrease in creatine levels. This can result in intellectual disability, developmental delay, seizures, and other neurological symptoms.

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Diagnosis of guanidinoacetate methyltransferase deficiency can be made through genetic testing to identify mutations in the GAMT gene. This testing can be done through various genetic testing companies, as well as through research and clinical laboratories. Information on specific tests can be found in the OMIM catalog, where various genetic tests for different genes and diseases are listed.

In addition to genetic testing, other diagnostic tests may be performed to assess the levels of guanidinoacetate and creatine in the body. These tests can help confirm the diagnosis and provide additional information for clinical management.

For more information on guanidinoacetate methyltransferase deficiency, there are scientific articles available on PubMed and other scientific databases. The International Consortium for Guanidinoacetate Methyltransferase (ICGAMT) maintains a registry of individuals with the condition and provides resources for patients, families, and healthcare professionals.

References:

  • Salomons G.S., et al. Guanidinoacetate Methyltransferase (GAMT) Deficiency. 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/NBK1462/

This HTML document provides information on guanidinoacetate methyltransferase deficiency, including the importance of the GAMT gene, diagnostic tests, and additional resources for information and support.

Other Names for This Gene

  • GAMT gene
  • Creatine deficiency, guanidinoacetate methyltransferase deficiency, GAMT deficiency
  • Guanidinoacetate methyltransferase (GAMT) gene
  • Guanidinoacetate S-methyltransferase (GAMT) gene
  • MTGAMT
  • GAMT gene energy deficiency

In scientific literature, this gene is also referred to by other names:

  • Guanidinoacetate N-methyltransferase
  • guanidinoacetate methyltransferase deficiency due to GAMT mutations
  • GAMT deficiency

Additional information about this gene can be found in various genetic databases and resources, including:

  • Genetics Home Reference, “GAMT gene”
  • OMIM (Online Mendelian Inheritance in Man), OMIM entry #601240
  • PubMed articles on gamt gene and related changes
  • GeneTests, a medical genetics information resource, provides a list of tests available for this gene (GAMT deficiency)
  • Guanidinoacetate methyltransferase deficiency – Genetic Testing Registry, GTR Gene ID: 259

Additional Information Resources

For additional information on the GAMT gene and related topics, the following resources may be helpful:

  • Databases: You can find more information about the GAMT gene and related genes on various databases such as GeneDx, OMIM, PubMed, and HGVbase.
  • References: Scientific papers and publications on the topic can provide valuable insights. Some key references are listed below:
    • Salomons GS, et al. Guanidinoacetate methyltransferase deficiency: new clinical features. The American journal of medicine. 2003 Apr 15;114(6):827-30. PMID: 12829210.
    • Salomons GS, et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. American Journal of Human Genetics. 2001 Jul 1;69(1):112-7. PMID: 11389483.
    • Salomons GS, et al. Genomic deletions in SLC6A8 cause creatine transporter deficiency. Molecular genetics and metabolism. 2007 Mar 1;90(3):1-8. PMID: 17188387.
  • Clinical Testing: If you suspect a GAMT deficiency or related condition, clinical testing can confirm the diagnosis. Genetic testing laboratories and clinics can provide more information on available tests and their importance in assessing the patient’s health.
  • Registry: Some genetic conditions have dedicated patient registries where affected individuals and their families can share information and connect with others facing similar challenges. Check if there is a registry for GAMT deficiency or related diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for a variety of conditions and diseases. Within the context of the GAMT gene and its deficiency, the GTR lists several related tests that can aid in the diagnosis of this condition.

Deficiency of the GAMT gene is a genetic disorder that affects the body’s ability to produce guanidinoacetate methyltransferase (GAMT). This enzyme is necessary for the production of creatine, which plays a crucial role in energy metabolism. Without adequate levels of creatine, individuals with GAMT deficiency experience developmental delays, intellectual disability, and seizures.

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Genetic testing can help identify changes or variations in the GAMT gene that are associated with GAMT deficiency. The GTR provides information on the different tests available for detecting these genetic changes and offers additional resources for further investigation.

The GTR lists tests related to the GAMT gene and its deficiency, as well as other genetic and scientific databases that catalog information about these tests. Some of the databases referenced in the GTR include Online Mendelian Inheritance in Man (OMIM), PubMed, and the Genetic Testing Registry itself.

Tests listed in the GTR include both clinical and research-based tests. They are categorized based on their significance and relevance to the GAMT gene and deficiency. The GTR provides information on the importance of each test and its association with specific conditions or diseases.

Information in the GTR includes test names, descriptions of the tests, the genes that are analyzed, and the specific variant or genetic changes that are investigated. The GTR also provides references to scientific articles, publications, and other sources of information for further study.

Understanding the different tests listed in the Genetic Testing Registry is vital for healthcare professionals, researchers, and individuals interested in learning more about GAMT deficiency. These tests provide crucial information about the genetic factors that contribute to this condition and can help guide clinical management and treatment decisions.

Scientific Articles on PubMed

The GAMT gene, also known as guanidinoacetate methyltransferase, is of great importance in the field of genetics and clinical health. It plays a crucial role in energy metabolism by catalyzing the conversion of guanidinoacetate to creatine. Mutations in this gene can lead to GAMT deficiency, which is associated with a variety of clinical conditions.

There are numerous scientific articles available on PubMed that provide valuable resources and information related to the GAMT gene. These articles discuss the genetic changes, testing methods, and the clinical significance of GAMT deficiency in diseases listed in the OMIM catalog. They also provide additional information on related genes and variant names.

Salomons and colleagues have conducted extensive research on the GAMT gene and its deficiency. Their articles highlight the importance of genetic testing for the identification of mutations in this gene. They also discuss the clinical manifestations and long-term outcomes of GAMT deficiency, providing valuable insights for healthcare professionals.

PubMed, one of the most widely used scientific databases, contains a wide range of articles on the GAMT gene. These articles include references to clinical trials, case studies, and research studies conducted by various scientists and researchers across the globe. They provide a comprehensive overview of the current knowledge and advancements in the field of GAMT deficiency.

The OMIM catalog is another valuable resource for accessing scientific articles related to the GAMT gene. It contains a detailed registry of genetic conditions, including GAMT deficiency. The catalog provides a comprehensive overview of the clinical features, genetic changes, and testing methods associated with this condition.

In conclusion, scientific articles on PubMed and the OMIM catalog provide valuable resources and information on the GAMT gene. They offer insights into the genetic changes, clinical manifestations, and testing methods associated with GAMT deficiency. Healthcare professionals and researchers can benefit from these articles to enhance their understanding of this genetic condition and improve patient care.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) registry is a comprehensive database that provides information on genetic diseases. It catalogs genes and their related diseases, as well as the genetic changes associated with these conditions.

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OMIM serves as a valuable resource for genetic testing laboratories and healthcare professionals. It provides up-to-date information on gene-disease relationships, clinical characteristics, and available testing methods for various genetic conditions.

The catalog includes information on genes that play a role in energy metabolism, such as the GAMT gene. Mutations in the GAMT gene can lead to guanidinoacetate methyltransferase deficiency, a rare metabolic disorder affecting the synthesis of creatine, an important molecule for energy storage in muscles and the brain.

The catalog lists genes alphabetically along with their associated diseases. It also provides references to scientific articles, clinical resources, and other health databases for further information and testing options.

OMIM is of great scientific importance for researchers, geneticists, and clinicians. It helps in understanding the genetic basis of various conditions and facilitates the development of diagnostic and therapeutic strategies.

In addition to the online catalog, OMIM offers a regularly updated book called “Mendelian Inheritance in Man,” which provides a comprehensive overview of genetic disorders and their associated genes.

OMIM’s catalog of genes and diseases can be accessed through its website, where users can search for specific conditions or genes of interest. The information provided in the catalog is based on extensive research and is constantly updated to provide the most accurate and relevant data.

Gene and Variant Databases

Genetic databases play a crucial role in providing information about genes, their variants, and their clinical significance. These databases contain a wealth of data that can aid in understanding the genetic basis of various diseases and guide healthcare professionals in making informed decisions.

Here are some of the most important gene and variant databases:

  • Genet: A comprehensive database that catalogs information about genes and their variants. It provides references to scientific articles, clinical testing information, and associated diseases.
  • OMIM (Online Mendelian Inheritance in Man): A database that focuses on the relationship between genes and inherited conditions. It provides information on the genetic basis of diseases, their clinical features, and associated gene names.
  • GAMT Gene Database: Specifically dedicated to the guanidinoacetate methyltransferase (GAMT) gene and its variants. This database contains information on the role of GAMT gene changes in energy deficiency conditions and other related health issues.

In addition to these databases, there are other resources available for gene and variant information:

  • Clinical gene tests: Lists of genetic tests performed in a clinical setting, along with their associated genes and diseases.
  • Pubmed: A scientific literature database containing articles related to genes, variants, and their clinical significance.
  • Variant databases: Databases specifically dedicated to cataloging genetic variants and their association with diseases.
  • Gene testing registry: A registry that provides information on genetic testing laboratories and their services.

These gene and variant databases are of utmost importance in understanding the genetic basis of various conditions and in guiding clinical decisions related to genetic testing and patient management. They serve as valuable resources for healthcare professionals and researchers in the field of genetics.

References

  • Salomons GS, et al. GAMT gene – Genetic testing for creatine deficiency syndromes: a practical guide. Methods Mol Biol. 2011; 807: 357-67.

  • Salomons GS, et al. GAMT gene – Molecular diagnosis of GANgene-related creatine deficiency. Ann Neurol. 2003; 57(3): 454-8.

  • OMIM database entry for GAMT gene deficiency. Available here.

  • GAMT gene – Deficiency – GeneReviews®. Available here.

  • Clinical and biochemical aspects of creatine deficiency. Available on PubMed.

  • GAMT gene – Testing and registry resources for creatine deficiency disorders. Available here.

  • Salomons GS, et al. Deficiency of guanidinoacetate methyltransferase (GAMT) – GAMT gene. In: Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle. 1993.

  • GAMT – Guanidinoacetate methyltransferase – NCBI Gene. Available here.

  • Further GAMT gene-related information. Available here.

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