The ETHE1 gene is a variant associated with Leigh syndrome, a genetic disorder characterized by progressive neurologic changes, including movement disorders, respiratory abnormalities, and muscle weakness.

Testing for ETHE1 gene variants can be done through genetic tests that analyze the DNA sequence of specific genes. These tests can be performed in specialized laboratories and are usually recommended for individuals with symptoms and signs consistent with Leigh syndrome or related conditions.

The ETHE1 gene is listed in various scientific databases, such as PubMed, OMIM, and Gene. Additional information on the gene and related conditions can be found in articles and scientific resources available in these databases.

The ETHE1 gene is known to be involved in energy metabolism in various tissues. Changes in this gene can lead to a complex metabolic disorder known as ethylmalonic encephalopathy (EE). Individuals with EE may experience excess production of specific molecules, resulting in the signs and symptoms of this syndrome.

Information on the ETHE1 gene, including genetic testing options, can also be obtained from specialized resources, such as the Ethylmalonic Encephalopathy Registry and the Genetic and Rare Diseases Information Center (GARD).

Genetic changes can play a complex role in the development of various health conditions. One such gene that has been implicated in certain health conditions is the ETHE1 gene.

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ETHE1, which stands for “ethylmalonic encephalopathy 1” gene, is responsible for encoding an enzyme that is involved in energy metabolism. Changes in this gene can result in the development of ethylmalonic encephalopathy, a rare genetic disorder characterized by excess ethylmalonic acid in the tissues.

There are several health conditions related to genetic changes in the ETHE1 gene, including:

  • Ethylmalonic encephalopathy: This syndrome is characterized by the accumulation of excess ethylmalonic acid in the body, leading to neurological symptoms such as developmental delay, regression, and muscle weakness.
  • Leigh syndrome: Genetic changes in the ETHE1 gene have also been associated with Leigh syndrome, which is a progressive neurological disorder that usually begins in infancy or early childhood. Symptoms can include motor and cognitive regression, seizures, and muscle weakness.

These health conditions can be diagnosed through genetic testing. Resources such as PubMed, OMIM, and other scientific databases provide information on ETHE1 gene-related health conditions, including references to relevant articles and additional gene names.

Genetic testing can help identify individuals who may be at risk for developing these conditions or carry genetic changes in the ETHE1 gene. Additionally, genetic counseling and registries can provide support and resources for individuals and families affected by these genetic changes.

In conclusion, genetic changes in the ETHE1 gene can result in various health conditions, including ethylmalonic encephalopathy and Leigh syndrome. Testing and resources are available to aid in the diagnosis and management of these diseases.

Ethylmalonic encephalopathy

Ethylmalonic encephalopathy is a genetic disorder related to mutations in the ETHE1 gene. It is a rare condition that affects the production of energy in the body and can lead to neurological symptoms.

The ETHE1 gene provides instructions for making an enzyme that is involved in the breakdown of certain molecules in the body, including ethylmalonic acid. Mutations in this gene result in a defective enzyme that cannot efficiently break down ethylmalonic acid, leading to its accumulation in tissues.

The excess ethylmalonic acid causes damage to different organs and tissues, especially the brain, leading to the symptoms of encephalopathy. These symptoms can include developmental delay, intellectual disability, seizures, muscle weakness, and problems with movement and coordination.

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The diagnosis of ethylmalonic encephalopathy is based on the presence of characteristic signs and symptoms, as well as genetic testing to identify mutations in the ETHE1 gene.

There are currently no specific treatments for ethylmalonic encephalopathy. Management mainly focuses on supportive care to manage the symptoms and improve the quality of life for affected individuals.

Further research is ongoing to better understand the underlying mechanisms of ethylmalonic encephalopathy and explore potential therapeutic targets.

For more detailed information on ethylmalonic encephalopathy, please refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions and genes. The entry for ethylmalonic encephalopathy can be found using the OMIM ID 602473.
  • GeneReviews: This resource provides expert-authored, peer-reviewed articles on genetic conditions. The article on ethylmalonic encephalopathy, written by Tiranti and Zeviani, can be accessed on the GeneReviews website.
  • PubMed: PubMed is a database of scientific articles. Searching for “ethylmalonic encephalopathy” will yield a list of relevant articles on the topic.
  • ETHNOS database: This database is a registry of names for genetic conditions and genes from various ethnic groups.
  • Leigh Syndrome International Registry: This registry collects clinical information and genetic data from individuals with Leigh syndrome and related conditions, including ethylmalonic encephalopathy.
  • Rinaldo Handbook of Metabolic Pathways: This handbook provides information on metabolic pathways and genetic diseases, and includes a section on ethylmalonic encephalopathy.

Genetic testing, performed by specialized laboratories, can confirm the diagnosis of ethylmalonic encephalopathy by identifying changes in the ETHE1 gene. These tests are usually done using a blood or tissue sample from the affected individual.

Additional databases and resources may also provide valuable information on ethylmalonic encephalopathy and related conditions. It is important to consult with healthcare professionals and genetic specialists for the most up-to-date and accurate information.

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalopathy, is a genetic disorder that affects the central nervous system. It is characterized by progressive degeneration of the brain, leading to developmental delays, loss of motor skills, and eventual death.

The ETHE1 gene is one of the genes associated with Leigh syndrome. Changes in this gene can lead to a buildup of ethylmalonic acid, causing excess energy production and oxidative stress in brain and other tissues.

Diagnosis of Leigh syndrome can be done through genetic testing, which involves analyzing the ETHE1 gene for changes or variants. Testing for ethylmalonic acid levels in the urine or blood can also be performed to confirm the diagnosis.

Additional information about Leigh syndrome and the ETHE1 gene can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide detailed information on the genetic basis, symptoms, and management of Leigh syndrome.


  • Rinaldo, P., et al. (2000). The inborn errors of mitochondrial fatty acid oxidation. J Inherit Metab Dis. 23(4): 463-78. PMID: 10896291.
  • Tiranti, V., et al. (2004). Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet. 13(12): 1265-74. PMID: 15115760.

Other Names for This Gene

The ETHE1 gene is also known by other names:

  • Ethylmalonic Encephalopathy 1 Gene
  • ETHE1
  • Ethylmalonic Encephalomyopathy 1

In scientific articles and related resources, you may find this gene listed with the following names:

  • ETH
  • Ethylmalonic Aciduria Encephalopathy Gene 1
  • Complex III Assembly Factor Gene ETHE1

Tests and testing for changes (variants) in the ETHE1 gene can be done by using databases such as PubMed, OMIM, and others. Additional information can be found in the Genetic Testing Registry and the GeneReview. Epub articles and references related to the gene can be found in scientific journals and databases.

Some diseases associated with changes in the ETHE1 gene include:

  • Ethylmalonic Encephalopathy
  • Ethylmalonic Aciduria

Rinaldo syndrome is another term used to refer to Ethylmalonic Aciduria.

Information on the ETHE1 gene can be found in the ETHE1 GeneReviews, which provide detailed information on its function, related diseases, and testing methods.

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Additional Information Resources

For additional information about the ETHE1 gene and related syndrome, testing, and diseases, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. OMIM entry – ETHE1 gene: 602473
  • PubMed Articles: Scientific articles related to ETHE1 and ethylmalonic encephalopathy can be found on PubMed. Search for articles using keywords such as “ETHE1,” “ethylmalonic encephalopathy,” and “ethymlaonic aciduria.”
  • The European Molecular Biology Laboratory (EMBL) EBI Genetic Databases: A collection of databases containing genetic and related biological data. These databases can be searched to find more information about the ETHE1 gene and related conditions.
  • The Leigh Syndrome Registry: A registry that collects and provides information on Leigh syndrome and related conditions. Information about ETHE1 and ethylmalonic encephalopathy may be available in this registry.
  • Genetic Testing: Genetic testing laboratories may offer specific tests for the ETHE1 gene and ethylmalonic encephalopathy. Consult with a healthcare provider or genetic counselor for more information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a centralized resource for researchers, health professionals, and the public to find information on genetic tests for various conditions and diseases.

One of the genes listed in the GTR is the ETHE1 gene. Mutations in this gene are associated with ethylmalonic encephalopathy, a rare metabolic disorder characterized by excess levels of ethylmalonic acid in tissues and energy-producing complexes. The syndrome manifests with neurological symptoms such as Leigh syndrome and ethylmalonic aciduria.

The GTR references various resources for additional information on the ETHE1 gene and related genetic conditions. These resources include scientific articles, databases such as OMIM and PubMed, and other genetic testing registries.

Tests listed in the GTR for the ETHE1 gene involve analyzing the gene for changes or mutations. These tests can provide valuable information for the diagnosis and management of ethylmalonic encephalopathy and related conditions.

It is important to note that the GTR is constantly updated with new tests and information. Therefore, it is recommended to regularly check the GTR for the most up-to-date information regarding genetic testing for the ETHE1 gene and other genes associated with similar conditions.

  • Tiranti V, et al. (2009). ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 46(7):[Epub ahead of print].
  • Rinaldo P. (1993). Excess of dimethyl sulphide in the breath of patients with ethylmalonic aciduria. N Engl J Med. 329(21):1529-30.
  • Genetic Testing Registry. ETHE1 gene. Available at: [link]
  • OMIM: Online Mendelian Inheritance in Man. ETHE1 gene. Available at: [link]
  • PubMed. ETHE1 gene. Available at: [link]

Scientific Articles on PubMed

The ETHE1 gene is associated with a rare syndrome called ethylmalonic encephalopathy. This variant of ethylmalonic encephalopathy is characterized by excess ethylmalonic acid in the tissues, which leads to energy deficiency and complex neurological symptoms. The gene was first identified by Tiranti et al. in 2004.

For additional information on the ETHE1 gene and the ethylmalonic encephalopathy syndrome, scientific articles can be found on PubMed. PubMed is a comprehensive catalog of scientific articles, providing access to a wide range of research in the field of genetics and other diseases.

To access articles on PubMed related to ethylmalonic encephalopathy and the ETHE1 gene, users can search for keywords such as “ETHE1 gene,” “ethylmalonic encephalopathy,” or “ethylmalonic aciduria.” The search results will provide a list of scientific articles and reviews from various research journals.

In addition to PubMed, there are other databases and resources available for further research on the ETHE1 gene and related conditions. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides genetic and clinical information on genes and genetic conditions.

For diagnostic testing and genetic counseling, healthcare providers and individuals can contact specialized laboratories and registries that offer tests for the ETHE1 gene and associated conditions. These laboratories can provide information on testing methods, changes in the gene, and additional references for further reading.

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Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on genetic testing, gene variants, and associated diseases. OMIM lists scientific resources and references for each gene and disease, making it a valuable tool for researchers and healthcare professionals.

One gene of interest in OMIM is ETHE1, which is associated with ethylmalonic encephalopathy. Ethylmalonic encephalopathy is a rare genetic condition characterized by changes in energy metabolism in various tissues of the body. The ETHE1 gene is responsible for the breakdown of ethylmalonic acid, and mutations or variations in this gene can lead to the accumulation of ethylmalonic acid, resulting in the symptoms of the syndrome.

OMIM provides additional information on related genes and diseases. For example, it includes articles from PubMed and other scientific databases that discuss ethylmalonic encephalopathy and its genetic causes. The catalog also lists other names for the syndrome, such as ethylmalonic aciduria and ethylmalonic acidemia, to facilitate easy searching.

OMIM serves as a registry for genetic testing labs and provides information on available tests for various genetic conditions. It also includes information on the clinical features and characteristics of different diseases and syndromes. This can help healthcare professionals in making accurate diagnoses and developing appropriate treatment plans.

Overall, OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides a comprehensive catalog of genes and diseases, along with information on genetic testing, scientific articles, and related resources.

Gene and Variant Databases

In the study of the ETHE1 gene, there are several gene and variant databases available to provide a comprehensive collection of information. These databases serve as a registry and catalog for genetic changes related to the ETHE1 gene and its associated conditions.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of genes and genetic disorders. OMIM provides detailed information on the ETHE1 gene, including the genetic changes associated with the ETHE1-related diseases such as ethylmalonic encephalopathy and ethylmalonic encephalopathy-like syndrome.

Another database that provides information on the ETHE1 gene is the GeneCards database. GeneCards is a searchable database that provides a summary of the information available on a specific gene. The database provides references to scientific articles, genetic tests, and resources related to the ETHE1 gene.

The PubMed database is another valuable resource for researching the ETHE1 gene. PubMed is a database of scientific articles, providing a vast collection of information on various genes and genetic disorders. By searching for “ETHE1 gene” in PubMed, researchers can find additional articles and studies related to this gene.

Additionally, there are several databases available specifically for genetic testing. These databases provide information on the genetic tests available for the ETHE1 gene. They list the names of the tests, the labs that offer them, and the tissues or conditions they are designed to test for.

Overall, the gene and variant databases play a crucial role in the study of the ETHE1 gene and related conditions. They provide a wealth of information, including genetic changes, associated diseases, scientific articles, and genetic testing resources. Researchers and healthcare professionals can rely on these databases to access accurate and up-to-date information for their research or clinical practice.


Additional information and resources can be found in the following databases and scientific articles: