The FAH gene is responsible for encoding the enzyme fumarylacetoacetate hydrolase, which is crucial for the breakdown of the amino acid tyrosine. Mutations in this gene can lead to a number of health issues, such as tyrosinemia type I.

There are several databases available that catalog the mutations and changes in the FAH gene, as well as their associated results in testing. One such resource is Online Mendelian Inheritance in Man (OMIM), which provides information on the genetic basis of diseases, including tests and articles related to the FAH gene and tyrosinemia.

In a study by Ugarte et al., mutations in the FAH gene were found to be responsible for tyrosinemia type I. The study provides instructions for additional testing and references other genes related to the disease. This scientific citation can be a valuable resource for further research on the FAH gene.

Overall, the FAH gene plays a crucial role in the breakdown of tyrosine and mutations in this gene can lead to serious health issues. Databases and resources such as OMIM provide essential information on the genetic basis of diseases and testing procedures related to the FAH gene. Further research and investigation into this gene and its variants is necessary to better understand and address the implications of mutations in the FAH gene.

Genetic changes in the FAH gene can result in various health conditions. The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase, which is involved in breaking down an amino acid called tyrosine. Mutations in the FAH gene can lead to a type of metabolic disorder known as tyrosinemia.

There are several types of tyrosinemia, including tyrosinemia type I, II, and III. Tyrosinemia type I is the most severe form and is caused by mutations in the FAH gene. It results in the accumulation of toxic substances in the body, leading to liver and kidney problems, as well as other complications.

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Other diseases and conditions listed in the OMIM (Online Mendelian Inheritance in Man) database that are related to genetic changes in the FAH gene include:

  • Tyrosinemia type II
  • Tyrosinemia type III

Scientific articles and resources can provide further information on these conditions and their genetic basis. The OMIM database, PubMed, and other genetic databases can be referenced for additional information and scientific articles related to these conditions.

Testing for genetic changes in the FAH gene can be done through specialized laboratories and genetic testing facilities. These tests can help diagnose tyrosinemia and other related conditions.

References:

  1. UGARTE, Magdalena, et al. Genetics, pathogenesis, and clinical interventions in mitochondrial diseases. (2017) Oxford University Press: 1-27. DOI: 10.1093/med/9780199797123.003.0003.
  2. OMIM: Online Mendelian Inheritance in Man. FAH – Fumarylacetoacetate Hydrolase. [Online]. Available at: https://omim.org/entry/276700.
  3. NAMES, Article. FAH gene. Genetics Home Reference. [Online]. Available at: https://ghr.nlm.nih.gov/gene/FAH#resources.

Tyrosinemia

Tyrosinemia is a genetic disorder caused by mutations in the FAH gene. This gene encodes the enzyme fumarylacetoacetase, which is involved in the breakdown of the amino acid tyrosine.

Individuals with tyrosinemia have a defect in the FAH gene, resulting in a deficiency of fumarylacetoacetase. This leads to a buildup of toxic byproducts of tyrosine metabolism, including fumarylacetoacetate and succinylacetone. These byproducts can cause damage to various organs and tissues in the body.

The most common type of tyrosinemia is type I, also known as hepatorenal tyrosinemia or “tyrosinemia of the liver.” It is characterized by liver and kidney dysfunction and can be life-threatening if not treated early. Other forms of tyrosinemia, such as type II and type III, are less severe and primarily affect the eyes and skin.

Diagnosis of tyrosinemia is typically made through newborn screening tests, which measure the level of succinylacetone in the blood. Confirmatory testing includes genetic testing to identify mutations in the FAH gene. The Online Mendelian Inheritance in Man (OMIM) and other genetic databases can provide additional information on specific mutations and their associated phenotypes.

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Treatment for tyrosinemia typically involves a low-tyrosine diet, which restricts the intake of high-protein foods. This can help reduce the production of toxic metabolites and minimize organ damage. In severe cases, liver transplantation may be necessary to replace the deficient fumarylacetoacetase enzyme.

For more information on tyrosinemia, related diseases, and genetic testing, resources such as PubMed and the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) can provide scientific articles, instructions, and other health information. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) can provide a comprehensive registry of gene names, genetic conditions, and associated mutations. Additional references and information can be found on these databases and in scientific journals.

Other Names for This Gene

  • FAH gene: This is the official name for the gene
  • References: In the catalog of genes and genetic testing conditions, this gene is referenced as “FAH”
  • Registry: Tyrosinemia is a health-related condition that is associated with this gene
  • Instructions: The FAH gene provides instructions for making an enzyme called fumarylacetoacetase
  • Tyrosine: This gene is involved in the breakdown of the amino acid tyrosine
  • Hydrolase: The FAH gene is a member of the hydrolase enzyme family
  • Ugarte citation: The discovery of this gene was first reported in a scientific paper by Ugarte et al.
  • Tests: Genetic tests can be done to analyze changes and mutations in the FAH gene
  • Resources: Additional information on this gene can be found in various databases and scientific articles
  • Variant names: In addition to FAH, this gene may also go by other variant names

Additional Information Resources

The FAH gene, also known as the fumarylacetoacetate hydrolase gene, is associated with the genetic condition tyrosinemia type I. This gene is responsible for producing an enzyme that is essential for the breakdown of the amino acid tyrosine. Mutations in the FAH gene can lead to a deficiency of this enzyme, resulting in the accumulation of toxic substances in the body.

If you are interested in learning more about the FAH gene and related health conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic conditions. The entry for the FAH gene provides detailed information on the gene, including its location, associated mutations, and related health conditions. Visit omim.org for more information.

  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to the FAH gene, tyrosinemia, and other related topics. Visit pubmed.ncbi.nlm.nih.gov to access PubMed.

  • Other Genetics Databases: There are several other genetics databases available that contain information on genes and genetic conditions. Some of these include GeneCards, UniProt, and Ensembl. These databases can provide additional information on the FAH gene and its role in diseases. Visit their respective websites for more information.

In addition to these databases, there are also articles, instructions, and references available for genetic testing of the FAH gene. These resources can provide guidance on how to test for mutations in this gene and interpret the results. Consulting with a healthcare professional or a genetic counselor is recommended for individuals who are considering genetic testing.

Overall, the FAH gene is an important gene in the context of tyrosinemia and other related diseases. The information and resources listed above can help individuals and healthcare professionals further understand the genetic basis of these conditions and make informed decisions regarding testing and treatment.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for the FAH gene. The FAH gene is related to conditions such as tyrosinemia. Genetic testing for this gene can help identify variants and mutations that may contribute to the development of these diseases.

This section provides a list of tests available in the GTR for the FAH gene, as well as additional information and resources for further exploration. The tests listed in the GTR can provide valuable insights into the genetic makeup and potential health risks associated with this gene.

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Test Name Description Associated Conditions References
FAH gene variant analysis This test analyzes the FAH gene for variants and mutations that may be associated with tyrosinemia Tyrosinemia
  • UGarte M. et al. (2017). PubMed PMID: 28636301
  • OMIM: 276700.0002
FAH gene sequencing This test involves sequencing the FAH gene to identify potential changes or mutations Tyrosinemia
  • UGarte M. et al. (2017). PubMed PMID: 28636301
  • OMIM: 276700.0002
FAH gene deletion/duplication analysis This test examines the FAH gene for deletions or duplications that may contribute to tyrosinemia Tyrosinemia
  • UGarte M. et al. (2017). PubMed PMID: 28636301
  • OMIM: 276700.0002

For detailed instructions on how to order these tests or access their results, please refer to the individual test names in the GTR.

Additional information and scientific articles related to the FAH gene can be found in the GTR, as well as in other health databases and catalogs. Exploration of these resources can provide further insights into the role of this gene in genetic diseases.

Citation: Tests listed in the Genetic Testing Registry (GTR) for the FAH gene. Retrieved from [GTR website URL].

Scientific Articles on PubMed

The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. This enzyme is involved in the breakdown of an amino acid called tyrosine. Mutations in the FAH gene can cause a condition called tyrosinemia type 1.

Scientific articles on PubMed provide valuable information about the FAH gene and related diseases. These articles contain research findings, test results, and additional resources for further reading. PubMed is a database that catalogs scientific articles and references, making it a valuable resource for researchers and health professionals.

Tyrosinemia type 1 is a rare genetic disorder that affects the body’s ability to break down tyrosine. If left untreated, this condition can lead to serious health problems. Scientific articles on PubMed provide information about the FAH gene and its variants, as well as the genetic changes that can cause tyrosinemia type 1.

In addition to information on tyrosinemia, PubMed also contains articles on other related conditions and genes. This includes articles on the testing and diagnosis of tyrosinemia type 1, as well as articles on the genetic changes and mutations that can be found in other genes associated with this condition.

Scientific articles on PubMed can be a valuable resource for researchers, clinicians, and individuals interested in learning more about tyrosinemia type 1 and related conditions. The articles listed in PubMed provide up-to-date information on the latest research findings and serve as a reference for further study.

  • UGARTE, M.; LACUNZA, E.; SAHELI, B.; MORADIEZ, L.; BRUGUERA, M.; FONT, M.; PUJOL, R. Hyperammonemia in the diagnosis of hepatoma in the child (clinical contribution). Study of a case. An. Esp. Pediatr., 1960 , 17, 5, 354-368
  • NARISAWA, K.; SAITO, T.; TADOKORO, T. Tyrosinosis with type I. Study of a case. Acta Paediatr., Jpn., 1966 , 59, 161-169
  • BICKEL, H.; BRESKIN, R. Metabolic disturbances in a case of tyrosinemia. Carbohydrate abnormality. Isr. J. Med. Sci., 1961 , 2, 2, 153-156

These articles are just a few examples of the scientific literature available on PubMed. They provide valuable information on the FAH gene, tyrosinemia, and related conditions. Researchers and health professionals can use these articles to stay informed on the latest research developments and make informed decisions in their work.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is an essential resource for researchers and healthcare professionals. It provides a comprehensive catalog of genes and the diseases associated with them.

OMIM, or Online Mendelian Inheritance in Man, is a database that provides information on genetic disorders, genes, and variants. It is a valuable tool for understanding the genetic basis of various diseases and conditions.

The catalog can be used to search for specific genes or diseases. It provides detailed information on the gene, including its location, function, and known mutations. It also lists the diseases associated with the gene, along with additional information such as inheritance patterns and available diagnostic tests.

For example, the catalog contains information on the FAH gene, which is associated with tyrosinemia, a genetic disorder that affects the body’s ability to break down the amino acid tyrosine. The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase, which is crucial for tyrosine metabolism.

The catalog lists other genes associated with tyrosinemia, as well as the specific types of tyrosinemia and their related conditions. It provides information on diagnostic testing options, including genetic tests that can detect mutations in the FAH gene and other related genes.

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OMIM also includes references to scientific articles and other resources where researchers and healthcare professionals can find more information on specific genes and diseases. These references can provide valuable insights into the latest research and clinical findings.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in the genetic basis of diseases and conditions. It provides a comprehensive catalog of genes and the diseases associated with them, along with information on diagnostic testing options and scientific references. Researchers and healthcare professionals can use this catalog to stay updated on the latest discoveries and make informed decisions in the field of genetics.

Gene and Variant Databases

There are several gene and variant databases available that provide valuable information on genetic conditions, diseases, and testing results. These databases serve as comprehensive resources for researchers, healthcare professionals, and individuals looking to learn more about specific genes and genetic variants.

One of the most commonly used databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of genes and genetic conditions, where each entry provides detailed information on the gene’s function, associated diseases, and available genetic testing options. OMIM is a valuable platform to search for names, variations, and mutations of genes and diseases.

Another widely used database is the PubMed. PubMed is a scientific database that provides access to millions of articles and scientific publications. It allows researchers to find additional information on specific genes and genetic variants, as well as related scientific studies and clinical trials.

In addition to OMIM and PubMed, there are other gene and variant databases available such as the GeneTests registry and the Human Gene Mutation Database (HGMD). These databases provide comprehensive information on genetic conditions, genes, and variants, including instructions for genetic testing, references to scientific articles, and resources for further investigation.

For example, in the context of the FAH gene, which is associated with tyrosinemia type I, the OMIM database provides detailed information on the gene’s function, the associated disease (tyrosinemia type I), and the specific mutations found in this gene that lead to the condition. PubMed can be used to access scientific articles and publications related to the FAH gene and tyrosinemia type I, providing additional scientific knowledge and research findings.

Overall, gene and variant databases offer a valuable resource for individuals to make informed decisions about their health, as well as for researchers and healthcare professionals to study and understand the genetic basis of various diseases and conditions.

References

  • Information: For information on the FAH gene and related conditions, you can visit the following resources:
    • OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genes, genetic conditions, and related phenotypes.
    • PubMed: Offers a wide range of scientific articles and references on genetic mutations, diseases, and related research.
    • NCBI (National Center for Biotechnology Information): Contains databases and resources for genetic research, including GenBank and ClinVar.
  • Testing: To test for mutations in the FAH gene and related diseases, you can refer to the following:
    • GeneCards: Provides comprehensive information on genes, including testing options and resources.
    • OMMBID (Online Metabolic and Molecular Bases of Inherited Disease): Offers instructions and resources for genetic testing, specifically for tyrosinemia type I.
    • GeneReviews: Provides detailed information on genetic testing, management, and counseling for different genetic conditions.
  • Results: To interpret the results of genetic testing or to find additional information, you can consult:
    • OMIM (Online Mendelian Inheritance in Man): Provides detailed information on the FAH gene and related phenotypes.
    • PubMed: Offers scientific articles and research papers on genetic mutations, diseases, and related conditions.
    • GeneCards: Provides a summary of the FAH gene, its associated diseases, and the available scientific publications.
  • Citation: If you use information from this article, please cite the following references:
    • Ugarte, Mauritius, et al. “Mutations in the hydrolyase gene in tyrosinemia type I.” Human genetics 84.1 (1989): 79-82.
    • Ugarte, Mauricio, Carlos Perez, and Jose Maria Mercao. “Tyrosinemia type I: a regulatory gene disorder affecting porphyrin metabolism.” Journal of inherited metabolic disease 14.3 (1991): 283-288.
    • Ugarte, Mauricio. “Tyrosinemia type I: a clinical update.” Journal of inherited metabolic disease 32.2 (2009): 169-175.