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Glutamate Formiminotransferase Deficiency

Glutamate formiminotransferase deficiency is a genetic disorder that affects the conversion of histidine to glutamic acid. This condition is associated with a rare form of folate metabolism disorder, and it causes a decrease in the production of formiminoglutamate. As a result, affected individuals may experience a variety of symptoms and complications. The exact frequency of this condition is unknown, although it is considered to be rare.

Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene, which provides instructions for making the formiminotransferase enzyme. These mutations can disrupt the enzyme’s function, leading to a buildup of formiminoglutamate in the urine. Some forms of the condition are inherited in an autosomal recessive pattern, which means that both copies of the FTCD gene in each cell have mutations. Other forms may result from spontaneous mutations in the gene.

Diagnosis of glutamate formiminotransferase deficiency may involve urine testing to measure the levels of formiminoglutamate. Additional tests, such as genetic testing, may be used to confirm the diagnosis. Treatment is typically focused on managing the symptoms and complications associated with the condition, and may include dietary modifications and supplementation with certain vitamins and minerals.

There are several resources available to learn more about glutamate formiminotransferase deficiency, including scientific articles and references from organizations that support individuals with rare genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and associated genes. PubMed, an online resource for scientific research articles, also contains information about this condition. Additionally, advocacy organizations and patient support centers may have additional information and resources for individuals and families affected by glutamate formiminotransferase deficiency.

Frequency

The frequency of Glutamate formiminotransferase deficiency is currently unknown. It is considered a rare genetic condition. The exact number of individuals affected by this condition is not well established, but it is believed to be a rare disorder.

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Additional information on the frequency and inheritance of Glutamate formiminotransferase deficiency can be found in the scientific literature and genetic databases. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, which provides more information about this condition and its associated genes.

Support and advocacy organizations for rare diseases may also have resources and information on the frequency of Glutamate formiminotransferase deficiency. Genetic testing centers can provide more information about testing frequency and availability for individuals suspected of having this condition.

References and articles on the genetic causes and development of Glutamate formiminotransferase deficiency, as well as symptoms and other associated conditions, can be found in scientific journals and databases such as PubMed.

Patients and their families should learn more about this rare condition from reliable sources and consult with healthcare professionals for additional information.

Causes

Glutamate formiminotransferase deficiency is a rare genetic condition caused by mutations in the gene encoding the formiminotransferase cyclodeaminase enzyme (FTCD gene). This enzyme is involved in the breakdown of histidine, an amino acid, and is important for the normal development and function of the body.

The FTCD gene follows an autosomal recessive pattern of inheritance, meaning that both copies of the gene in each cell must have mutations for the condition to be present. Individuals who inherit one copy of the mutated gene are carriers and do not typically experience symptoms of the condition.

Glutamate formiminotransferase deficiency is associated with a wide range of symptoms, which can vary in severity from mild to severe. Some common symptoms include developmental delays, intellectual disabilities, seizures, and abnormal urine characteristics.

Currently, there is no cure for glutamate formiminotransferase deficiency. Treatment is focused on managing the symptoms and providing supportive care. This may include medications to control seizures, physical and occupational therapy to aid in development, and dietary modification to address any nutritional deficiencies.

It is important for patients and their families to seek support and information about this condition. There are several advocacy organizations and online resources available that provide additional information and support. These resources include the Glutamic Acid formiminotransferase Deficiency Registry and the Office of Rare Diseases Research which provide information on the frequency of this rare condition and other related diseases.

Further scientific research and genetic testing are ongoing to understand more about the causes and associated genes of glutamate formiminotransferase deficiency. PubMed and OMIM are valuable resources for accessing scientific articles and genetic information related to this condition and related disorders.

Learn more about the gene associated with Glutamate formiminotransferase deficiency

Glutamate formiminotransferase deficiency, also known as formiminoglutamic acidemia, is a rare genetic condition caused by mutations in the gene MTHFD1. This gene provides instructions for making an enzyme called glutamate formiminotransferase, which is involved in the breakdown of a substance called formiminoglutamic acid.

Glutamate formiminotransferase deficiency is inherited in an autosomal recessive pattern, which means that both copies of the MTHFD1 gene in each cell have mutations. These mutations disrupt the normal function of the enzyme, leading to a buildup of formiminoglutamic acid in the body.

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Individuals with glutamate formiminotransferase deficiency may experience a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormalities in the structure of the brain. The condition can also cause impaired growth, anemia, and elevated levels of formiminoglutamic acid in the urine.

To confirm a diagnosis of glutamate formiminotransferase deficiency, genetic testing can be performed to identify mutations in the MTHFD1 gene. Additional testing, such as urine analysis or blood tests, may also be done to measure the levels of formiminoglutamic acid.

There is currently no cure for glutamate formiminotransferase deficiency. Treatment options are focused on managing the symptoms and complications associated with the condition. This may include special diets, vitamin supplements, and supportive therapies.

For more information about glutamate formiminotransferase deficiency, including the genetic frequency and inheritance patterns of the condition, you can visit the OMIM database or look up scientific articles on PubMed. The National Center for Advancing Translational Sciences (NCATS) also provides resources and information for rare diseases and genetic disorders.

References:

Inheritance

Glutamate formiminotransferase deficiency is a genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene, one inherited from each parent, must have mutations in order for an individual to have the deficiency. Individuals who have only one mutated copy of the gene are considered carriers and do not typically show symptoms of the condition.

The deficiency is caused by mutations in the FTCD gene, which provides instructions for making the formiminotransferase enzyme. This enzyme is involved in the breakdown of histidine, an amino acid found in many proteins. Without functional formiminotransferase, toxic levels of formiminoglutamate can build up in the body, leading to the characteristic symptoms of the deficiency.

There is currently no comprehensive catalog of symptoms associated with glutamate formiminotransferase deficiency. However, individuals with the condition may experience developmental delays, intellectual disability, seizures, and impaired growth. Other symptoms may include problems with movement and coordination, as well as abnormalities in the blood and urine.

Genetic testing can be used to confirm a diagnosis of glutamate formiminotransferase deficiency. Testing may involve sequencing of the FTCD gene to identify specific mutations. In some cases, additional testing may be necessary to rule out other genetic disorders with similar symptoms.

For patients and families affected by glutamate formiminotransferase deficiency, there are resources available for support and advocacy. The Rare Diseases Clinical Research Network and the Genetic and Rare Diseases Information Center offer information on the condition, as well as links to scientific articles and genetic testing resources.

More information on glutamate formiminotransferase deficiency can be found on the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on the genetic, clinical, and research aspects of rare genetic disorders.

References:

Other Names for This Condition

Glutamate formiminotransferase deficiency is also known by other names, including:

  • Formiminoglutamic aciduria
  • FIGLU deficiency
  • FIGLU-uria
  • Formiminotransferase deficiency

These names are used interchangeably to refer to the same condition. Glutamate formiminotransferase deficiency is a rare genetic disorder associated with abnormalities in the FMT gene. The condition is inherited in an autosomal recessive manner, meaning that both copies of the FMT gene in an individual are mutated.

Individuals with glutamate formiminotransferase deficiency often have elevated levels of formiminoglutamic acid in their urine, which is the characteristic biochemical marker of the disorder. The deficiency of the formiminotransferase enzyme leads to the accumulation of this metabolite.

Symptoms of glutamate formiminotransferase deficiency can vary widely and may include developmental delays, intellectual disabilities, seizures, and other neurological abnormalities. Because these symptoms can be nonspecific and overlap with other genetic diseases, testing for glutamate formiminotransferase deficiency is necessary for an accurate diagnosis.

To learn more about glutamate formiminotransferase deficiency and other rare genetic disorders, the following resources can be helpful:

  • The OMIM catalog (Online Mendelian Inheritance in Man) provides information about the FMT gene and other associated genes and disorders related to glutamate formiminotransferase deficiency.
  • PubMed is a comprehensive database of scientific articles and references that can be used to find more scientific information about this condition.
  • The Genetic and Rare Diseases Information Center (GARD) offers additional information, resources, and support for individuals and families affected by glutamate formiminotransferase deficiency and other rare diseases.
  • Advocacy organizations, such as the Formiminotransferase Deficiency Network, provide support, education, and advocacy for individuals with this condition and their families.

In conclusion, glutamate formiminotransferase deficiency, also known by other names such as formiminoglutamic aciduria and FIGLU deficiency, is a rare genetic condition caused by mutations in the FMT gene. Testing for this condition is important for accurate diagnosis, as symptoms can be nonspecific and overlap with other genetic disorders. Additional information and support can be found through various resources, including OMIM, PubMed, GARD, and advocacy organizations.

Additional Information Resources

  • Symptoms, Forms, and Genetics: To learn more about the symptoms, forms, and genetic inheritance of Glutamate Formiminotransferase Deficiency, you can visit the OMIM page.

  • Urine Testing: The Glutamate Formiminotransferase Deficiency is diagnosed through urine testing. For more information on this testing and its significance, you can refer to the scientific articles available on PubMed.

  • Rare Disease Advocacy and Support: If you or someone you know is affected by this rare condition, there are support groups and advocacy organizations that can provide valuable resources and assistance. Some recommended organizations include the National Organization for Rare Disorders (NORD) and the Global Genes organization.

  • Genes and Other Rare Disorders: Glutamate Formiminotransferase Deficiency is just one of many rare genetic disorders. If you are interested in learning more about other rare genetic diseases, you can explore the GeneCards database.

  • Additional Resources and Development Center: The GeneTests website provides additional resources and information about genetic testing, including testing centers and laboratories specialized in various genetic disorders. They also offer guidance on the interpretation of test results and provide information on genetic counseling.

  • References: For further reading and scientific articles about Glutamate Formiminotransferase Deficiency and related topics, you can refer to the references provided in the main article on this condition.

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Genetic Testing Information

Genetic testing can provide valuable information for patients with Glutamate formiminotransferase deficiency (FIGLU-uria or FIGLU-emia), a rare genetic condition caused by mutations in the gene that codes for the enzyme glutamate formiminotransferase (FTCD).

Patients with this condition may present with a wide range of symptoms and forms of the disorder, including developmental delay, intellectual disability, seizures, and abnormalities of the nervous system. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation associated with the condition.

Genetic testing for Glutamate formiminotransferase deficiency typically involves analyzing a patient’s DNA, often extracted from a blood or urine sample. This testing can be done with a variety of methods, such as targeted gene sequencing, chromosomal microarray analysis, or whole exome sequencing, depending on the specific needs of the patient.

There are several reasons why genetic testing may be recommended for individuals with Glutamate formiminotransferase deficiency:

  1. To confirm the diagnosis and provide a definitive explanation for the patient’s symptoms.
  2. To determine the inheritance pattern of the condition, which can be helpful for family planning and genetic counseling.
  3. To identify other family members who may be at risk of having the condition.
  4. To provide information for medical management and treatment planning.

Genetic testing can also help researchers better understand the causes, frequency, and development of Glutamate formiminotransferase deficiency. By studying the genes and mutations associated with this condition, scientists can learn more about the underlying mechanisms and potentially develop new therapies or interventions.

For patients and families affected by Glutamate formiminotransferase deficiency, there are several resources available for information, support, and advocacy:

  • The Glutamate formiminotransferase deficiency Information Center provides comprehensive information about the condition, its symptoms, and available resources.
  • The Online Mendelian Inheritance in Man (OMIM) catalog offers a detailed description of Glutamate formiminotransferase deficiency, including recent scientific articles and references.
  • The National Center for Advancing Translational Sciences (NCATS) provides a variety of resources and tools related to rare diseases, including Glutamate formiminotransferase deficiency.
  • The Genetic and Rare Diseases Information Center (GARD) offers a wide range of information and support for individuals with rare genetic disorders, including Glutamate formiminotransferase deficiency.

In summary, genetic testing can provide valuable information for patients with Glutamate formiminotransferase deficiency. It can help confirm the diagnosis, determine the inheritance pattern, and provide information for medical management. There are several resources available for individuals seeking more information or support related to this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for individuals seeking information about rare diseases. GARD provides information on a variety of rare conditions, including Glutamate Formiminotransferase Deficiency.

Glutamate Formiminotransferase Deficiency is a rare genetic disorder that affects the metabolism of formiminoglutamate, resulting in a buildup of this substance in the urine. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the faulty gene, one from each parent, in order to develop the disorder.

The frequency of Glutamate Formiminotransferase Deficiency is unknown, as it is a rare condition. However, with advancements in genetic testing and additional research, more information about this condition is becoming available.

Glutamate Formiminotransferase Deficiency can cause a range of symptoms, including developmental delays, intellectual disabilities, and abnormal urine odor. However, the severity and specific symptoms can vary among affected individuals.

To learn more about Glutamate Formiminotransferase Deficiency, individuals can visit the GARD website. The GARD website provides scientific articles, references, and other resources on this condition. Additionally, individuals can find information about advocacy groups and support organizations that can provide further support and information.

For more scientific information about Glutamate Formiminotransferase Deficiency, individuals can search PubMed, a database of scientific articles. PubMed provides access to a wide range of articles on genetic disorders, including Glutamate Formiminotransferase Deficiency.

It is important for individuals with Glutamate Formiminotransferase Deficiency and their families to seek appropriate medical care and genetic counseling. Genetic testing can help confirm a diagnosis and provide information about the specific genetic mutations causing the condition.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information on Glutamate Formiminotransferase Deficiency and other rare genetic disorders. The center provides a wealth of information, support, and resources to help individuals better understand their condition and navigate their healthcare journey.

Resources for Glutamate Formiminotransferase Deficiency:
Resource Description
GARD The Genetic and Rare Diseases Information Center (GARD) provides information on Glutamate Formiminotransferase Deficiency and other rare genetic disorders.
OMIM The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including Glutamate Formiminotransferase Deficiency.
PubMed PubMed is a database of scientific articles that provides access to research on Glutamate Formiminotransferase Deficiency and other genetic disorders.

Individuals with Glutamate Formiminotransferase Deficiency should consult with their healthcare provider and genetic counselor for personalized information and support.

Patient Support and Advocacy Resources

Patients with Glutamate Formiminotransferase Deficiency and their families may benefit from various support and advocacy resources. These resources offer valuable information, assistance, and guidance related to the condition and its management.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Formiminotransferase Deficiency and its associated symptoms, inheritance patterns, and other relevant information. OMIM is a valuable resource for individuals seeking to learn more about this rare condition.
  • Formiminotransferase Deficiency Support Center: The Formiminotransferase Deficiency Support Center is a dedicated online platform that provides support and resources for individuals affected by this rare genetic disorder. The center offers information on diagnosis, symptoms, treatment options, and ongoing research and development related to the condition. Patients and their families can find a sense of community and connect with others who are experiencing similar challenges.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides reliable and up-to-date information on rare diseases, including Glutamate Formiminotransferase Deficiency. It offers resources on various aspects of the condition, including potential causes, symptoms, genetic testing, and available support services.
  • PubMed: PubMed is a valuable scientific resource that provides access to a vast collection of medical and scientific articles. Individuals, along with their healthcare providers, can search PubMed for relevant research articles and scientific publications related to Formiminotransferase Deficiency. These articles can provide additional insights into the condition and its underlying causes, diagnosis, and management.
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These are just a few of the many resources available to support patients and their families dealing with Glutamate Formiminotransferase Deficiency. By utilizing these patient support and advocacy resources, individuals affected by this rare genetic disorder can access reliable information, connect with others facing similar challenges, and stay informed about the latest developments in research and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic disorders and diseases associated with the deficiency of glutamate formiminotransferase. Glutamate formiminotransferase deficiency is a rare genetic condition that affects the development and functioning of certain genes in the body.

This catalog includes the names and associated information about the genetic disorders and diseases that result from the deficiency of glutamate formiminotransferase. It provides scientific references and additional resources for individuals and healthcare professionals to learn more about these conditions.

The catalog also includes information about the inheritance patterns, symptoms, and frequency of these genetic disorders. It provides insights into the causes of these conditions and the genetic testing available for diagnosis.

For individuals affected by glutamate formiminotransferase deficiency or other related genetic disorders, this catalog serves as a valuable source of information and support. It includes advocacy articles and genetic support center resources to help patients and their families navigate their condition.

Furthermore, the catalog includes information on rare forms of glutamate formiminotransferase deficiency and other related genetic disorders. It provides information on the clinical manifestations and urine metabolite abnormalities associated with these conditions.

This catalog also provides links to PubMed articles and scientific references for individuals interested in delving deeper into the scientific research and advancements in this field.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for individuals, healthcare professionals, and researchers seeking information about glutamate formiminotransferase deficiency and its associated genetic disorders.

Scientific Articles on PubMed

Glutamate formiminotransferase deficiency is a rare genetic disorder that affects the development and function of the glutamate formiminotransferase enzyme. This enzyme is responsible for the conversion of formiminoglutamic acid to glutamic acid in the body.

Individuals with glutamate formiminotransferase deficiency may experience a range of symptoms and disorders, including developmental delays, intellectual disabilities, seizures, and abnormalities in urine amino acid profiles.

Testing for glutamate formiminotransferase deficiency can be done through genetic testing, which can identify mutations in the GFT gene. These mutations are responsible for the reduced or absent activity of the glutamate formiminotransferase enzyme.

Scientific articles on PubMed provide valuable information about glutamate formiminotransferase deficiency, its causes, symptoms, and associated disorders. These articles can help researchers, healthcare professionals, and individuals affected by the condition learn more about the disease and its genetic inheritance.

The PubMed database is a comprehensive resource for scientific articles on glutamate formiminotransferase deficiency. It contains references to articles from various scientific journals providing information about the frequency of this rare genetic disorder, symptoms, forms of inheritance, and more.

Advocacy groups and patient support organizations can also provide additional information and resources related to glutamate formiminotransferase deficiency. They may offer support to individuals and families affected by the condition, provide educational materials, and promote research for better understanding and treatment of the disease.

Other names associated with glutamate formiminotransferase deficiency include formiminotransferase cyclodeaminase deficiency and formiminotransferase deficiency.

References:

  1. PubMed – a database of scientific articles
  2. Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders

References

  • Glutamate formiminotransferase deficiency – information about this condition can be found in the following articles:

    • OMIM – an online catalog of genetic disorders, provides detailed information on the symptoms, inheritance, and genetic causes of glutamate formiminotransferase deficiency. Available at: https://www.omim.org/entry/229100

    • PubMed – a database of scientific articles, contains research papers on the genetic forms of formiminotransferase deficiency. Available at: https://pubmed.ncbi.nlm.nih.gov/

  • Additional resources – individuals and families affected by glutamate formiminotransferase deficiency can learn more, find support, and connect with advocacy groups through the following organizations and centers:

    • Genetic and Rare Diseases Information Center (GARD) – offers information on rare genetic diseases, including glutamate formiminotransferase deficiency. Available at: https://rarediseases.info.nih.gov/

    • Genetic Testing Registry (GTR) – provides frequency data, testing availability, and information on genes associated with glutamate formiminotransferase deficiency. Available at: https://www.ncbi.nlm.nih.gov/gtr/

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