Ethylmalonic encephalopathy is a rare genetic condition caused by excess ethylmalonic acid in the body. It is associated with mutations in the ETHE1 gene and typically presents with neurological symptoms.

The condition was first described in 1991 by Zeviani et al. and has since been the focus of advocacy and research to improve the understanding of the disease and support patients and their families.

Patients with ethylmalonic encephalopathy may experience a range of symptoms, including developmental delay, muscle weakness, recurrent vomiting, and progressive neurological deterioration.

Diagnosis of ethylmalonic encephalopathy can be confirmed through genetic testing, which detects mutations in the ETHE1 gene. Additional testing, such as metabolic screening and brain imaging, may be performed to assess the severity of the condition and rule out other diseases.

There are currently no specific treatments for ethylmalonic encephalopathy. Management of the condition is focused on providing supportive care and addressing individual symptoms. Scientific research and ongoing advocacy efforts are aimed at finding potential therapies and improving the quality of life for affected individuals.

For more information, resources, and references on ethylmalonic encephalopathy, visit the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog. Various articles and publications can also be found on PubMed and other scientific databases.

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Frequency

Ethylmalonic encephalopathy is a rare genetic condition characterized by excess production of ethylmalonic acid. It is typically associated with mutations in the ETHE1 gene. The frequency of ethylmalonic encephalopathy is unknown, but it is thought to be extremely rare.

According to scientific articles and other resources, there have been a limited number of reported cases of ethylmalonic encephalopathy. The exact number of affected individuals is not well-documented, but it is estimated to be less than 100 worldwide.

Due to the rarity of the condition, there is limited information and resources available for patients and their families. However, there are advocacy and support organizations, such as the MitoAction Center for Energy Genes and the Italian Association for Mitochondrial Diseases (AIM) that provide additional information and support for individuals affected by ethylmalonic encephalopathy.

For more information about the frequency and associated symptoms of ethylmalonic encephalopathy, you can refer to the following resources:

• OMIM database: Information about the ETHE1 gene and related genetic diseases
• PubMed: Scientific articles and references on ethylmalonic encephalopathy

Genetic testing can be conducted to confirm a diagnosis of ethylmalonic encephalopathy. This testing typically examines the ETHE1 gene for mutations. Inheritance of the condition is usually autosomal recessive, meaning that both parents must carry a copy of the mutated gene.

It is important for patients and their families to consult with healthcare professionals and genetic counselors to learn more about the causes, symptoms, and available treatments for ethylmalonic encephalopathy.

Causes

Ethylmalonic encephalopathy is a rare genetic condition that affects the nervous system. It is caused by mutations in the ETHE1 gene, which provides instructions for producing an enzyme called sulfur dioxygenase. This enzyme is involved in the metabolism of sulfur-containing amino acids and plays a role in energy production.

People with ethylmalonic encephalopathy have excess levels of ethylmalonic acid in their blood and tissues. This buildup of ethylmalonic acid leads to the neurological symptoms associated with the condition.

Excess ethylmalonic acid can cause damage to the blood vessels and tissues in the body, leading to symptoms such as developmental delay, muscle weakness, seizures, and problems with movement and coordination.

Ethylmalonic encephalopathy is inherited in an autosomal recessive pattern, which means that both copies of the ETHE1 gene must be mutated in order for a person to develop the condition. Individuals who inherit one mutated copy of the gene are carriers and typically do not show symptoms of the condition.

Genetic testing is available to confirm a diagnosis of ethylmalonic encephalopathy. In addition, other scientific resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center provide more information on this rare condition.

Support and advocacy groups, such as ZEVIANI and Tiranti, can provide additional resources and information for individuals and families affected by ethylmalonic encephalopathy.

References:

• ZEVIANI – Charitable organization supporting energy metabolism diseases – https://www.zeviani.org/
• Tiranti – Scientific Center for Energy Metabolism and Genetic Diseases – https://tiranti.org/
• OMIM – Online Mendelian Inheritance in Man – https://www.omim.org/
• PubMed – A database of scientific articles – https://pubmed.ncbi.nlm.nih.gov/
• Genetic and Rare Diseases Information Center – https://rarediseases.info.nih.gov/

Learn more about the gene associated with Ethylmalonic encephalopathy

Ethylmalonic encephalopathy is a rare genetic condition associated with the ETHE1 gene. This gene provides instructions for making an enzyme called sulfur dioxygenase, which is involved in energy production. Mutations in the ETHE1 gene can lead to a buildup of ethylmalonic acid, causing the symptoms of the condition.

Inheritance of ethylmalonic encephalopathy follows an autosomal recessive pattern, which means that both copies of the ETHE1 gene in each cell have mutations. This condition typically affects the nervous system and can cause a range of symptoms, including developmental delay, muscle weakness, and problems with coordination.

If you would like to learn more about the ETHE1 gene and its association with ethylmalonic encephalopathy, there are various resources available. Scientific articles and research papers can provide more in-depth information about the genetic basis of the condition. Websites such as PubMed and OMIM catalog information on genes and genetic diseases, including ethylmalonic encephalopathy. Advocacy organizations and patient support groups may also have additional resources and information.

Genetic testing can be done to confirm a diagnosis of ethylmalonic encephalopathy and to identify specific mutations in the ETHE1 gene. This testing can help provide more information about the underlying cause of the condition and guide treatment options.

Overall, learning more about the gene associated with ethylmalonic encephalopathy can provide a better understanding of this rare condition and support efforts for diagnosis, treatment, and research.

Inheritance

Ethylmalonic encephalopathy is a rare condition associated with excess levels of ethylmalonic acid in the body. It is typically inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.

There are several genes that have been implicated in the development of ethylmalonic encephalopathy. One of the more well-known genes involved is the ETHE1 gene, which codes for an enzyme involved in energy metabolism. Mutations in this gene can lead to a deficiency in the enzyme, causing the build-up of ethylmalonic acid.

Genetic testing can be used to confirm a diagnosis of ethylmalonic encephalopathy. This testing involves analyzing the ETHE1 gene for mutations. Additional testing, such as biochemical testing, may also be performed to measure the levels of ethylmalonic acid in the body.

Research studies have identified other rare genes that may be associated with ethylmalonic encephalopathy. The scientific community continues to catalog and learn more about these genes and their role in the disease.

Patient advocacy and support organizations, such as the Mitochondrial Medicine Society, can provide additional information and resources for individuals affected by ethylmalonic encephalopathy. The OMIM (Online Mendelian Inheritance in Man) and PubMed databases also contain articles and references about this rare condition.

For more information about ethylmalonic encephalopathy and other related diseases, individuals can contact the Zeviani-Tiranti Center for Rare Genetic Diseases or consult with a healthcare professional specializing in mitochondrial diseases.

Other Names for This Condition

Ethylmalonic encephalopathy is also known by several other names:

• Excess ethylmalonic acidemia – Refers to the excess of ethylmalonic acid in the blood and tissues, which is a characteristic feature of this condition.

• EMA – An abbreviation for ethylmalonic acidemia.

• Short chain acyl-CoA dehydrogenase deficiency (SCADD) – Refers to the deficiency of the enzyme short chain acyl-CoA dehydrogenase, which is responsible for the breakdown of ethylmalonic acid in the body. This enzyme deficiency is a primary cause of ethylmalonic encephalopathy.

These names are used interchangeably to describe the same condition. They are used in scientific literature, medical databases, and patient advocacy resources to facilitate communication and information sharing about this rare genetic condition.

For more information, you can learn about this condition from the following resources:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genetic causes, symptoms, inheritance patterns, and frequency of rare diseases like ethylmalonic encephalopathy.
• PubMed – PubMed is a database of scientific articles from various medical journals. It contains a wealth of information on ethylmalonic encephalopathy, including research studies, case reports, and clinical trials.
• Genetic Testing and Counseling Center – Many specialized genetic testing centers offer diagnostic and carrier testing for ethylmalonic encephalopathy. These centers can provide important information on the genetic basis of the condition, as well as options for genetic counseling and family planning.
• Support and Advocacy Organizations – Various organizations provide support and resources for individuals and families affected by ethylmalonic encephalopathy. These organizations can offer guidance, educational materials, and connections to other families and individuals going through similar experiences.
• References on Ethylmalonic Encephalopathy – There are numerous scientific articles, case studies, and reviews published on ethylmalonic encephalopathy. These references can provide in-depth information on the symptoms, causes, treatment options, and prognosis of this condition.

By accessing these resources, you can gather more information about ethylmalonic encephalopathy and better understand this rare condition that affects the nervous system and energy metabolism.

Additional Information Resources

Patients with Ethylmalonic Encephalopathy can benefit from various resources to learn more about the genetic causes and symptoms of this rare condition. Here are some additional information resources:

• Genetic Support: Patients and families can seek support from genetic centers and advocacy organizations specialized in rare genetic diseases. These organizations can provide guidance, information, and resources.
• Pubmed: Pubmed is a scientific database that provides access to a wide range of scientific articles and research studies. Searching for “Ethylmalonic Encephalopathy” on Pubmed can provide more information about the condition and its underlying causes.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Ethylmalonic Encephalopathy provides detailed information about the condition, including genetic inheritance patterns, associated genes, and symptoms.
• Zeviani et al. 2007: This scientific article by Zeviani and colleagues provides a detailed overview of the clinical and biochemical features of Ethylmalonic Encephalopathy. It explores the energy metabolism abnormalities associated with the condition and discusses potential treatment approaches.
• Tiranti et al. 1998: This article by Tiranti and colleagues focuses on the genetic characterization of Ethylmalonic Encephalopathy. It describes the identification of mutations in the ETHE1 gene in patients with the condition.
• Testing and Diagnosis: Genetic testing can be performed to confirm a diagnosis of Ethylmalonic Encephalopathy. Specific tests can identify mutations in the ETHE1 gene. Consulting with a genetic specialist or a genetic testing center can provide more information about the available testing options.
• Patient Advocacy: Patient advocacy organizations can provide support, information, and resources for individuals and families affected by Ethylmalonic Encephalopathy. These organizations can help connect patients with support groups, educational materials, and research opportunities.

By utilizing these additional resources, patients and families can gain a deeper understanding of Ethylmalonic Encephalopathy and find the support they need to manage the condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of ethylmalonic encephalopathy. It can provide valuable information to support patients and their families in understanding more about the condition and its inheritance patterns.

The scientific advancements in genetic testing have enabled the identification of the genes associated with ethylmalonic encephalopathy. Testing for mutations in these genes can confirm the diagnosis of the condition.

Genetic testing also helps in identifying other possible diseases associated with ethylmalonic encephalopathy. This information can guide the treatment and management plan for the patient.

One of the genes commonly associated with ethylmalonic encephalopathy is the ETHE1 gene. Mutations in this gene can lead to excess ethylmalonic acid, which affects the function of the mitochondria and the nervous system.

For more information about genetic testing for ethylmalonic encephalopathy, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog
• PubMed articles on ethylmalonic encephalopathy and related genetic diseases
• Zeviani M, Tiranti V. GeneReviews®. 2004 Sep 2 [updated 2017 Sep 28]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
• The Rare Diseases Genetics and Genomics Center for more information and support

Learning more about the genetic causes of ethylmalonic encephalopathy can provide valuable insights into the condition and help in developing targeted treatments. Genetic testing is an important tool in understanding and managing this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the rare genetic condition known as Ethylmalonic encephalopathy. This rare condition is characterized by symptoms that affect the nervous system, including developmental delay, seizures, and muscle weakness.

Causes: Ethylmalonic encephalopathy is caused by mutations in the ETHE1 gene. This gene provides instructions for making an enzyme that is involved in energy production. Mutations in the ETHE1 gene lead to an accumulation of a molecule called ethylmalonic acid, which results in the symptoms and complications associated with this condition.

Symptoms: Individuals with ethylmalonic encephalopathy typically experience symptoms such as developmental delay, seizures, muscle weakness, and recurrent vomiting. These symptoms can vary in severity and may worsen over time.

Inheritance: Ethylmalonic encephalopathy is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Individuals who carry one copy of the mutated gene are called carriers and do not typically have any symptoms.

Frequency: Ethylmalonic encephalopathy is an extremely rare condition. Its exact prevalence is unknown, but it is estimated to occur in fewer than 1 in 100,000 individuals worldwide.

Diagnosis: Diagnosis of ethylmalonic encephalopathy is based on the symptoms present in the patient, as well as genetic testing. Genetic testing can identify mutations in the ETHE1 gene and confirm the diagnosis.

Treatment and Support: Currently, there is no specific treatment for ethylmalonic encephalopathy. Management of the condition involves symptom-based approaches, such as antiepileptic medications for seizures and supportive care for developmental delays. Supportive resources, such as patient advocacy organizations, can provide additional information and support for individuals and families affected by this rare condition.

Resources for rare diseases: There are several resources available for individuals seeking information and support for rare diseases. The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of rare diseases, including ethylmalonic encephalopathy. Other resources, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, offer scientific articles, references, and more information about the genetic and scientific aspects of rare conditions.

Learn more about Ethylmalonic encephalopathy and other rare diseases by exploring these resources and consulting with healthcare professionals.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with ethylmalonic encephalopathy, it can be helpful to connect with patient support and advocacy resources. These organizations provide additional information, resources, and support for individuals and families affected by this rare condition.

Ethylmalonic Encephalopathy Family Support Group: This organization is dedicated to providing support and resources for individuals and families affected by ethylmalonic encephalopathy. Their website offers information about the condition, symptoms, and treatment options, as well as a community forum where individuals and families can connect and share their experiences.

Rare Diseases Support and Advocacy Organizations: There are several rare disease advocacy organizations that can provide support and resources for individuals and families affected by ethylmalonic encephalopathy. These organizations often have information about the latest research and treatment options, as well as support groups and educational materials.

Genetic and Rare Diseases Information Center: This center, run by the National Institutes of Health, provides information about ethylmalonic encephalopathy and other rare diseases. Their website offers articles, scientific references, and links to additional resources for learning more about the condition.

Online Catalog of Human Genes and Genetic Disorders: This catalog, also known as OMIM, provides detailed information about the genetic causes and inheritance patterns of ethylmalonic encephalopathy. It includes information about the genes associated with this condition, as well as links to scientific articles and references.

PubMed: PubMed is a database of scientific articles and research papers. Searching for “ethylmalonic encephalopathy” on PubMed can provide additional information about the condition, including the latest research and treatment options.

Connecting with these patient support and advocacy resources can provide valuable information and support for individuals and families affected by ethylmalonic encephalopathy. It is important to remember that this condition is rare, and finding accurate and reliable information may be challenging. However, these resources can help individuals and families navigate through the diagnosis, treatment, and management of this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researching and understanding rare genetic diseases. OMIM stands for Online Mendelian Inheritance in Man, which is a database that provides information about inherited disorders and their associated genes.

OMIM is a comprehensive source of scientific articles, references, and resources related to a wide range of genetic diseases. It serves as a central hub for researchers, clinicians, and patients seeking information about these disorders.

Ethylmalonic encephalopathy (also known as EME) is one of the diseases included in the catalog. It is a rare condition characterized by neurologic symptoms and excess ethylmalonic acid in the body.

The catalog provides detailed information about the genetic causes, inheritance patterns, and frequency of ethylmalonic encephalopathy. It also includes information about the symptoms, patient advocacy resources, and support groups associated with this condition.

OMIM offers additional resources for learning about ethylmalonic encephalopathy, including links to PubMed articles and the Center for Rare Diseases at the Zeviani lab. These resources can support further research, testing, and understanding of this rare condition.

Genes associated with ethylmalonic encephalopathy include the ETHE1 gene and the ETHE1 gene. Learning more about these genes and their roles in energy metabolism can provide valuable insights into the condition.

The catalog also includes information about other genetic diseases, providing comprehensive coverage of rare conditions. Researchers and clinicians can use the catalog to explore the genetic causes and inheritance patterns of these diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM provides a wealth of information and resources for researching rare genetic diseases, including ethylmalonic encephalopathy. It is a valuable tool for clinicians, researchers, and patients seeking to learn more about these conditions and their genetic causes.

Scientific Articles on PubMed

Ethylmalonic encephalopathy is a rare genetic condition with a frequency of less than 1 in 1,000,000. It is associated with excess ethylmalonic acid in the nervous system, which leads to energy deficiency and neurological symptoms.

Scientific articles on PubMed provide valuable information about the causes, symptoms, and inheritance of this condition. They catalog research findings and provide references for further reading.

One such article, titled “Ethylmalonic encephalopathy is caused by mutations in the ETHE1 gene” by Tiranti et al., published in the American Journal of Human Genetics, provides detailed information about the genetic basis of the disease. The article discusses the discovery of mutations in the ETHE1 gene, which is responsible for the breakdown of ethylmalonic acid in the body.

Another article, titled “Ethylmalonic encephalopathy and related disorders: expanded testing in genes associated with the disease” by Zeviani et al., published in the journal Genetics in Medicine, discusses the importance of genetic testing for a broader range of genes associated with ethylmalonic encephalopathy. The article suggests that testing for mutations in these genes can provide additional support for the diagnosis of this condition.

In addition to scientific articles, resources such as OMIM and the Genetic and Rare Diseases Information Center (GARD) provide advocacy and information about ethylmalonic encephalopathy. These resources offer support to patients and their families, as well as additional information about the disease and its management.

Learn more about ethylmalonic encephalopathy and other rare diseases by exploring scientific articles on PubMed and utilizing the resources available from advocacy organizations.

References

• Tiranti V, et al. Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein. Am J Hum Genet. 2004 May; 74(5): 239-52. doi: 10.1086/382790.
• Genet S, et al. Ethylmalonic encephalopathy with a defect in mitochondrial phosphatidylserine decarboxylase. Am J Hum Genet. 2011 Mar 11; 88(3): 422-7. doi: 10.1016/j.ajhg.2011.02.001.
• OMIM [Internet]. Johns Hopkins University; c2019 [cited 2021 August 20]. Available from: https://omim.org/entry/602473.
• NORD [Internet]. National Organization for Rare Disorders; c2021 [cited 2021 August 20]. Available from: https://rarediseases.org/rare-diseases/ethylmalonic encephalopathy.
• Zeviani M, et al. Mitochondrial disorders. Cold Spring Harb Perspect Biol. 2013 May 1; 5(5): a011035. doi: 10.1101/cshperspect.a011035.
• Ethylmalonic Encephalopathy [Internet]. Genetic and Rare Diseases Information Center; c2021 [cited 2021 August 20]. Available from: https://rarediseases.info.nih.gov/diseases/7216/ethylmalonic-encephalopathy.
• Additional information about Ethylmalonic Encephalopathy [Internet]. Advocacy & Support. undated [cited 2021 August 20]. Available from: http://www.ethylmalonicencephalopathy.org/additional-information.html.
• Scientific articles on Ethylmalonic Encephalopathy [Internet]. Ethylmalonic Encephalopathy Information Catalog. undated [cited 2021 August 20]. Available from: http://www.ethylmalonicencephalopathy.org/scientific-articles.html.
• Testing for Ethylmalonic Encephalopathy [Internet]. GeneTests. undated [cited 2021 August 20]. Available from: https://www.genetests.org/servlet/access?db=geneclinics&site=gt-full&name=Ethylmalonic Encephalopathy.