Mitochondrial neurogastrointestinal encephalopathy disease

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is a rare genetic disorder that affects the nervous and gastrointestinal systems. It is caused by mutations in the TYMP gene, which leads to a deficiency in the enzyme thymidine phosphorylase. This enzyme is responsible for breaking down a molecule called thymidine, and without it, thymidine accumulates in the body.

The accumulation of thymidine in individuals with MNGIE disease leads to severe mitochondrial dysfunction. Mitochondria are organelles within our cells that play a crucial role in producing energy. The dysfunction of mitochondria in MNGIE disease affects various organs, including the brain, nerves, and gastrointestinal tract.

Common symptoms of MNGIE disease include neurological abnormalities such as leukoencephalopathy (a type of brain damage), peripheral polyneuropathy (nerve damage), and ophthalmoparesis (weakness or paralysis of eye muscles). Gastrointestinal symptoms include chronic diarrhea, malabsorption, and intestinal pseudo-obstruction.

Diagnosing MNGIE disease can be challenging due to its rarity and the wide range of symptoms it presents. Genetic testing is often used to identify mutations in the TYMP gene. However, further biochemical and clinical testing may be needed to confirm the diagnosis. The MNGIE disease is currently managed at specialized centers that provide comprehensive care and support to individuals with the condition.

Research on MNGIE disease and its genetic causes is ongoing, with numerous studies dedicated to understanding the underlying mechanisms and developing potential treatments. More information about the disease and related research can be found in scientific articles, advocacy organizations, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

In conclusion, Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is a rare genetic disorder with severe neurological and gastrointestinal symptoms. It is caused by mutations in the TYMP gene, leading to a deficiency in the enzyme thymidine phosphorylase. The dysfunction of mitochondria due to thymidine accumulation affects various organ systems, and diagnosis can be challenging. Ongoing research aims to provide more insights into the disease and develop potential treatments for individuals with MNGIE disease.

Frequency

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disease. Its frequency is estimated to be about 1 in every 300,000-350,000 individuals worldwide. MNGIE primarily affects the gastrointestinal system and the nervous system.

MNGIE is caused by a deficiency of the enzyme thymidine phosphorylase (TYMP), which is necessary for the breakdown of thymidine. Without this enzyme, thymidine accumulates in the body and leads to mitochondrial dysfunction, particularly in cells with high mitotic rates such as the muscles and nerves.

The disease is characterized by symptoms such as chronic progressive external ophthalmoplegia, gastrointestinal pseudo-obstruction, and peripheral polyneuropathy. Patients with MNGIE may also experience additional neurological and gastrointestinal symptoms.

Due to the rare nature of MNGIE, it can be difficult to learn about the disease and its causes. However, there are resources available for patients and their families, including advocacy organizations and research centers. The MNGIE Disease Information Page on the National Institute of Neurological Disorders and Stroke (NINDS) website provides information on clinical trials, genetics, and additional resources.

Genetic testing can confirm a diagnosis of MNGIE. The TYMP gene is responsible for the condition, and mutations in this gene can be detected through genetic testing. It is important for patients with MNGIE to receive a proper diagnosis to ensure appropriate management and treatment.

Research studies are ongoing to learn more about the biochemical and neurological causes of MNGIE. These studies aim to improve our understanding of the disease and develop potential treatments or interventions. Information on ongoing clinical trials can be found on websites such as ClinicalTrials.gov.

Names and Inheritance
Name(s) Inheritance
MNGIE Autosomal recessive
Neurogastrointestinal encephalopathy Autosomal recessive
Hirano body disease Autosomal recessive

Causes

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive genetic disorder. It is caused by mutations in the TYMP gene, which provides instructions for making the enzyme thymidine phosphorylase. This enzyme is involved in the breakdown of thymidine, a molecule found in DNA, and the production of energy in the mitochondria, the powerhouses of the cells.

Individuals with MNGIE have a deficiency in thymidine phosphorylase, which leads to a buildup of thymidine and other toxic molecules in the body. This buildup can result in neurological and gastrointestinal symptoms, as well as various systemic manifestations.

The genetic inheritance of MNGIE follows an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the disease. Carriers of the mutated gene, who have one normal and one mutated copy, do not typically show symptoms of the disease.

The neurological symptoms of MNGIE are caused by the progressive damage and dysfunction of the nervous system. These can include muscle weakness and wasting (atrophy), peripheral neuropathy, and a variety of neurological symptoms such as seizures, stroke-like episodes, and cognitive impairment.

The gastrointestinal symptoms of MNGIE are primarily due to the dysfunction of the digestive system. These can include chronic intestinal pseudo-obstruction, which is a condition characterized by the inability of the muscles in the digestive tract to propel food through the intestines, leading to symptoms such as abdominal pain, bloating, and vomiting.

Other systemic manifestations of MNGIE can involve the eyes, skin, heart, and other organs and systems in the body.

Diagnosis of MNGIE involves a combination of clinical evaluation, biochemical testing, and genetic testing. A muscle biopsy may also be performed to examine the mitochondrial function and confirm the diagnosis.

Treatment options for MNGIE are currently limited, and management primarily focuses on supportive care and symptom relief. This can include nutritional support, medications to manage gastrointestinal symptoms, and physical therapy to help maintain muscle strength and function.

Research and clinical trials are ongoing to explore potential treatment approaches, including enzyme replacement therapy and stem cell transplantation. Additional information about ongoing studies can be found on websites such as ClinicalTrials.gov and PubMed.

Patient advocacy groups, such as the Mitochondrial Disease Patient Community and the United Mitochondrial Disease Foundation, can provide resources, support, and information about the condition and available resources.

For more information about MNGIE, including frequency and other genetic causes, OMIM (Online Mendelian Inheritance in Man) and other scientific publications can be consulted. The Mitochondrial Disease Patient Information page on the MitoAction website is also a helpful resource with articles, videos, and other information about this condition.

Learn more about the gene associated with Mitochondrial neurogastrointestinal encephalopathy disease

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare genetic condition that affects multiple systems in the body, including the nervous system and gastrointestinal tract. It is caused by mutations in the gene called thymidine phosphorylase (TYMP).

The TYMP gene provides instructions for making an enzyme called thymidine phosphorylase. This enzyme is involved in the breakdown of thymidine, a molecule found within cells. In individuals with MNGIE, mutations in the TYMP gene result in reduced or absent thymidine phosphorylase activity, leading to an accumulation of thymidine and other toxic substances within the cells.

Patients with MNGIE often experience symptoms such as gastrointestinal dysfunction, including severe bloating and pseudo-obstruction, as well as neurological problems, such as muscle weakness and leukoencephalopathy. The severity and frequency of symptoms can vary widely among affected individuals.

Genetic testing is usually performed to confirm a diagnosis of MNGIE. This involves analyzing the TYMP gene for mutations or changes. Genetic counseling may also be recommended for individuals and families who have been diagnosed with or are at risk of MNGIE to understand the inheritance pattern and the likelihood of passing on the condition to future generations.

Research on MNGIE is ongoing, and there are resources available for patients and their families to learn more about the disease. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic diseases, including MNGIE. PubMed, a database of scientific articles, also contains research articles on MNGIE and related topics.

ClinicalTrials.gov is another valuable resource for those interested in participating in clinical trials or learning about ongoing research studies on MNGIE. The Hirano Lab at the Columbia University Irving Medical Center is one of the centers conducting research on MNGIE and provides additional information and resources on the disease. There are also advocacy and support groups that offer educational materials and support for individuals and families affected by MNGIE.

In summary, MNGIE is a rare genetic disease caused by mutations in the TYMP gene. It leads to a variety of symptoms affecting the gastrointestinal and nervous systems. Genetic testing can confirm a diagnosis, and resources such as OMIM, PubMed, ClinicalTrials.gov, and advocacy groups offer information and support for individuals with MNGIE.

See Also:  KRT3 gene

Inheritance

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare genetic condition with an autosomal recessive inheritance. This means that both copies of the gene responsible for MNGIE must be mutated in order for the disease to occur. The gene involved in MNGIE is the TYMP gene, which provides instructions for making an enzyme called thymidine phosphorylase.

The TYMP gene is associated with the mitochondrial thymidine salvage pathway, a system that helps regulate the levels of thymidine, a molecule involved in DNA synthesis, in the mitochondria. Mutations in the TYMP gene disrupt this pathway, causing a deficiency in the thymidine phosphorylase enzyme.

Individuals with MNGIE have a variety of symptoms that affect the nervous system, gastrointestinal tract, and muscles. These symptoms can include gastrointestinal pseudo-obstruction, neurological problems such as polyneuropathy, and muscle weakness.

MNGIE is a rare condition, and there are currently no known cures for the disease. However, there are management and supportive therapies available to help alleviate symptoms and improve the quality of life for individuals with MNGIE. These may include nutritional support, enzyme replacement therapy, and physical therapy.

Genetic testing can be conducted to confirm a diagnosis of MNGIE. This can involve analyzing the TYMP gene for mutations. Additional testing, such as biochemical and enzymatic analysis, may also be performed to provide further information about the condition.

There are several resources available for individuals and families affected by MNGIE. These include advocacy organizations, such as the MitoAction and the United Mitochondrial Disease Foundation, which provide support, information, and resources for patients and their families. Scientific articles and studies can also be found on platforms such as PubMed and OMIM, providing further information on the genetic causes and clinical manifestations of MNGIE.

ClinicalTrials.gov is another valuable resource for learning about ongoing research and clinical trials related to MNGIE. These studies aim to find new treatments and interventions for the disease, and individuals with MNGIE may be eligible to participate in these trials.

Other Names for This Condition

Other names for mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) include:

  • Thymidine phosphorylase deficiency disease
  • Leukoencephalopathy with thymidine phosphorylase deficiency
  • Pseudo-obstruction, visceral, with destructive mitochondrial myopathy
  • Neurogastrointestinal encephalopathy
  • Thymidine phosphorylase deficiency
  • Hirano disease

MNGIE is a rare genetic condition associated with defects in the TYMP gene, which codes for the enzyme thymidine phosphorylase. It is characterized by gastrointestinal symptoms, neurological manifestations, and muscle weakness. To learn more about the causes, symptoms, and testing for MNGIE, refer to the following resources:

  • Mitochondrial Neurogastrointestinal Encephalopathy Disease on Genetic and Rare Diseases Information Center (GARD) website
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease on OMIM (Online Mendelian Inheritance in Man) website
  • Scientific articles and references on PubMed
  • Clinical studies and trials on ClinicalTrials.gov

Additional Information Resources

Here are some additional resources for learning more about Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE):

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases. You can find detailed information about MNGIE and related genes on their website.
  • Mitochondrial Disease Support: The Mitochondrial Disease Support website offers resources and support for individuals and families affected by mitochondrial diseases, including MNGIE. They provide information on clinical trials, research studies, and advocacy efforts.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. You can find information on ongoing clinical trials related to MNGIE and other mitochondrial diseases on their website.
  • Hirano M., DiMauro S.: “Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)”. In: Pagon RA., Adam MP., Bird TD., et al., eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 2007.
  • Tadesse S.: “Mitochondrial neurogastrointestinal encephalopathy disease”. In: GeneReviews: NCBI Bookshelf; 2019.
  • Biochemical studies: Biochemical studies can help diagnose MNGIE by detecting abnormalities in mitochondrial enzyme activities, such as thymidine phosphorylase (TYMP). These studies are usually performed on a muscle or liver biopsy sample.
  • Genetic testing: Genetic testing can confirm a diagnosis of MNGIE by identifying mutations in the TYMP gene. This testing can be done using a blood or tissue sample.

It is important to consult with a healthcare professional or a genetic counselor for accurate and up-to-date information on MNGIE and its management.

Genetic Testing Information

Genetic testing plays a crucial role in the identification and diagnosis of Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE). MNGIE is a rare genetic disorder that affects the gastrointestinal system and muscles.

There are several resources available for genetic testing for MNGIE. These resources include research studies, scientific catalogs, and online databases. PubMed, OMIM, and ClinicalTrials.gov are some of the well-known platforms that provide comprehensive information on genetic testing for MNGIE and other related diseases.

Genetic testing for MNGIE primarily involves analyzing specific genes associated with the disease. Mutations in the TYMP gene, which codes for the enzyme thymidine phosphorylase, have been found to be the primary cause of MNGIE. However, other genes and molecular defects may also contribute to the condition.

Patient advocacy groups and support organizations can provide additional information and support regarding genetic testing for MNGIE. They can help connect individuals with healthcare professionals and provide information about ongoing clinical trials and research studies.

The frequency of MNGIE is extremely rare, making it a challenging disease to diagnose. Genetic testing can help confirm the diagnosis and aid in the development of personalized treatment plans.

It is important to note that genetic testing for MNGIE is not available in all regions and may be associated with specific limitations. Therefore, it is recommended to consult with healthcare professionals experienced in mitochondrial diseases to determine the appropriate testing options and resources available within a specific region.

References:

  • Tadesse S. Mitochondrial neurogastrointestinal encephalopathy disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.
  • The Genetic and Rare Diseases Information Center (GARD). Mitochondrial neurogastrointestinal encephalopathy disease. Retrieved from: https://rarediseases.info.nih.gov/diseases/8230/mitochondrial-neurogastrointestinal-encephalopathy-disease
  • PubMed: Search results for “mitochondrial neurogastrointestinal encephalopathy disease genetic testing”. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=mitochondrial+neurogastrointestinal+encephalopathy+disease+genetic+testing
  • ClinicalTrials.gov: Search results for “mitochondrial neurogastrointestinal encephalopathy disease genetic testing”. Retrieved from: https://clinicaltrials.gov/ct2/results?cond=mitochondrial+neurogastrointestinal+encephalopathy+disease+genetic+testing
  • Biochemical and Molecular Defects in MNGIE: Implications for Gene Therapy. Leukoencephalopathy with Thymidine Phosphorylase Deficiency (MNGIE). Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK209841/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for information on genetic and rare diseases. It provides information on various conditions, including Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE).

MNGIE is a rare genetic disorder characterized by mitochondrial dysfunction. It affects multiple systems in the body, including the neurological, gastrointestinal, and muscular systems. The disease is caused by deficiencies in the thymidine phosphorylase (TYMP) gene, which leads to an accumulation of toxic molecules in the body.

Patients with MNGIE may experience symptoms such as muscle weakness, gastrointestinal pseudo-obstruction, and polyneuropathy. The disease is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene, one from each parent, to develop the condition.

Testing for MNGIE can be performed to confirm a diagnosis. Genetic studies can identify mutations in the TYMP gene, and additional tests may be done to assess mitochondrial function. Diagnosis of MNGIE may also involve clinical evaluations and other tests to assess the severity and specific symptoms of the disease.

The Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by MNGIE. It offers information on the disease, including its frequency and inheritance patterns, as well as available treatments and management options. The center also provides references to published articles, research studies, and clinical trials related to MNGIE.

For more information on MNGIE and other genetic and rare diseases, the Genetic and Rare Diseases Information Center is an excellent resource to explore. It offers a catalog of diseases, each with detailed information on their causes, symptoms, diagnosis, and treatment options. The center also provides advocacy resources and support groups for individuals and families affected by rare diseases.

References:

  • Tadesse S, Hinttala R, Bouillaud F, et al. (2007). The molecular basis of impaired fatty acid oxidation: Metabolic tests in fibroblasts reveal a deficiency in electron transfer to electron transfer flavoprotein. Orphanet J Rare Dis 2:11.
  • Zhou X, Li A, Wang Y, Wang M (2014). Mitochondrial neurogastrointestinal encephalopathy disease: case report and review of the literature. Neuropathology 34(6):610-616.
  • OMIM. Entry #603041: Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE). Available from: https://omim.org/entry/603041.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and resources for individuals and families affected by Mitochondrial Neurogastrointestinal Encephalopathy Disease (MNGIE). Here are some resources that can help patients and their families navigate this rare genetic disorder:

  • Genetic Support: The MNGIE disease is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. To learn more about the genetic causes of MNGIE, patients and their families can refer to online resources such as OMIM, a comprehensive catalog of human genes and genetic disorders.
  • Medical Research: Keeping up with the latest scientific research on MNGIE is essential for patients and their families. Websites like PubMed provide access to a wide range of scientific articles that discuss the disease, its symptoms, and potential treatments.
  • Clinical Trials: Clinical trials are an important avenue for patients with MNGIE to explore potential treatment options. The website ClinicalTrials.gov provides a database of ongoing clinical trials related to MNGIE and other mitochondrial diseases.
  • Patient Support Groups: Connecting with other individuals and families affected by MNGIE can provide valuable support and information. Patient support groups, such as the MNGIE Support & Advocacy Group, offer a platform for sharing experiences, resources, and coping strategies.
  • Financial Assistance: Managing the costs associated with MNGIE can be challenging. Patients and their families may benefit from financial assistance programs offered by organizations like the United Mitochondrial Disease Foundation (UMDF) and the Global Genes Rare Patient Impact Grant Program.
  • Neurological Support: MNGIE affects various neurological functions, including muscle control and digestion. Seeking neurological support from specialists, such as neurologists and gastroenterologists experienced in mitochondrial diseases, can help manage symptoms and improve quality of life.
See Also:  Hypokalemic periodic paralysis

These resources help patients and their families access vital information, support, and advocacy for dealing with the complex challenges posed by MNGIE. For additional references and more information about the disease, patients and their families are encouraged to explore the resources mentioned above.

Research Studies from ClinicalTrialsgov

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE disease) is a rare genetic neurological condition associated with mutations in the thymidine phosphorylase (TYMP) gene. This disease is characterized by a wide range of symptoms affecting the gastrointestinal system, nervous system, and other organs.

Research studies from ClinicalTrials.gov are focused on understanding the causes, frequency, and biochemical mechanisms of MNGIE disease. These studies aim to provide more information about the disease and develop potential treatments.

One of the research studies listed on ClinicalTrials.gov is investigating the natural history and progression of MNGIE disease. This study aims to collect data on the clinical features, genetic mutations, and outcomes of patients with MNGIE disease to better understand the disease course.

Another study focuses on enzyme replacement therapy as a potential treatment for MNGIE disease. This study aims to evaluate the safety and efficacy of a specific enzyme replacement therapy in improving the symptoms and quality of life for patients with MNGIE disease.

In addition to studies specific to MNGIE disease, ClinicalTrials.gov also provides resources and information about mitochondrial diseases in general. These resources include scientific articles, genetic information, and patient advocacy resources. By exploring the clinical trial catalog on ClinicalTrials.gov and resources such as Online Mendelian Inheritance in Man (OMIM), individuals can learn more about mitochondrial diseases and find support for themselves or their loved ones.

It is important to note that MNGIE disease is just one of the many mitochondrial diseases, and research studies on ClinicalTrials.gov and other scientific databases may also lead to advances in the understanding and treatment of other mitochondrial diseases with similar genetic and neurological features.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for biomedical research, allowing scientists and clinicians to access information on genetic conditions.

OMIM includes various types of genetic diseases, including mitochondrial neurogastrointestinal encephalopathy disease (MNGIE). MNGIE is a rare condition characterized by neurological and gastrointestinal symptoms. It is caused by a deficiency of the enzyme thymidine phosphorylase, which leads to an accumulation of toxic molecules in the body.

Patients with MNGIE often experience muscle weakness, gastrointestinal dysfunction, neurologic abnormalities, and leukoencephalopathy. The disease can affect various body systems, including the nervous, gastrointestinal, and muscular systems.

Diagnosis of MNGIE can be confirmed through genetic testing. The T gene is responsible for the condition and mutations in this gene can be identified through genetic testing. Additional biochemical testing may also be performed to assess thymidine phosphorylase activity.

Within the OMIM database, each genetic condition is given a unique OMIM number and is described in detail. For MNGIE, the OMIM number is 603041. OMIM provides a summary of the condition, its associated gene, inheritance patterns, and a list of references for further reading.

OMIM is not the only resource available for information on MNGIE. PubMed, a database of scientific articles, includes numerous research papers on the disease. ClinicalTrials.gov provides information on ongoing clinical trials for MNGIE and other related disorders.

Advocacy and support groups for MNGIE can also be found, providing resources and information for patients and families. These organizations can help individuals learn more about the disease, connect with other affected individuals, and find support.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers and clinicians. It provides information on various genetic conditions, including mitochondrial neurogastrointestinal encephalopathy disease. OMIM, along with other resources like PubMed and ClinicalTrials.gov, allows for a comprehensive understanding of these rare diseases.

Scientific Articles on PubMed

In researching the condition known as mitochondrial neurogastrointestinal encephalopathy disease (MNGIE), it is important to consult scientific articles in order to understand the neurological implications and management strategies for patients with this rare genetic disorder.

PubMed is a valuable resource for accessing scientific literature on MNGIE and related diseases. PubMed is a database maintained by the National Center for Biotechnology Information (NCBI), and it provides access to a vast collection of research articles from various scientific journals.

When searching PubMed for articles on MNGIE, it is helpful to use keywords such as “mitochondrial neurogastrointestinal encephalopathy disease,” “MNGIE,” “neurological disorders,” “genetic diseases,” and “mitochondrial deficiency.”

Some of the key topics covered in scientific articles on MNGIE include the molecular and biochemical causes of the disease, the neurological symptoms experienced by patients, the gastrointestinal manifestations, and the inheritance patterns of the condition. Additionally, there is research on the management and treatment options for MNGIE, including the use of thymidine and other interventions.

In order to find relevant articles, it is advisable to search not only for the full name of the condition but also for other terms associated with it, such as “neurogastrointestinal encephalopathy,” “tymp deficiency,” and “mitochondrial leukoencephalopathy.”

PubMed provides a range of additional resources that can aid in further research on MNGIE, such as references to related genes and molecules, clinical trials listed on ClinicalTrials.gov, and information from the Online Mendelian Inheritance in Man (OMIM) database.

Advocacy and support groups for MNGIE patients and their families can also be found through PubMed. These groups offer valuable information and resources to help individuals affected by the disease better understand their condition and connect with others facing similar challenges.

Overall, PubMed is an essential tool for researchers and clinicians looking to learn more about mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) and related topics. By accessing scientific articles through PubMed, professionals can stay up-to-date on the latest research findings and use that knowledge to improve the care and management of patients with this rare mitochondrial disease.

References

  • Hirano, M., & Carelli, V. (2006). Mitochondrial neurogastrointestinal encephalopathy (MNGIE): Clinical, biochemical, and genetic features. Neurotherapeutics, 3(3), 239-251. doi: 10.1016/j.nurt.2006.05.011
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://omim.org/
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  • ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

Additional resources for information on mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) include:

  • Center for Mitochondrial and Epigenomic Medicine (C-MEM). (n.d.). Retrieved from https://mitomedicine.com/
  • Genetic and Rare Diseases Information Center (GARD). (n.d.). Retrieved from https://rarediseases.info.nih.gov/
  • International MNGIE Patient Registry. (n.d.). Retrieved from https://mitochondrialdiseaseregistry.org/mngie/
  • MNGIE Advocacy. (n.d.). Retrieved from https://mngieadvocacy.org/

Genes and associated molecules with MNGIE
Gene Associated Molecule
TYMP Thymidine Phosphorylase

Research studies on the genetic causes, clinical manifestations, biochemical abnormalities, and neurological symptoms of MNGIE can provide more information about the disease. The frequency of MNGIE is rare, and it is inherited in an autosomal recessive manner.

Patient support resources for MNGIE are available through advocacy organizations and research centers, providing additional information, resources, and clinical trial information for patients and their families.

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