Overview
Mitochondrial neurogastrointestinal encephalomyopathy, often called MNGIE (pronounced 'min-gee'), is a rare inherited disease that affects the mitochondria — the tiny power plants inside your cells. When mitochondria do not work properly, many parts of the body can be affected, especially the digestive system, nerves, muscles, and brain. MNGIE is caused by changes (mutations) in a gene called TYMP, which leads to a buildup of toxic substances called thymidine and deoxyuridine in the blood and tissues. Over time, these substances damage the mitochondria throughout the body. The most noticeable problems in MNGIE involve the gut. People with MNGIE often have severe stomach and intestinal issues, including nausea, vomiting, bloating, stomach pain, and difficulty absorbing food. This can lead to serious weight loss and malnutrition. The nervous system is also affected, causing weakness in the muscles around the eyes (drooping eyelids), hearing loss, and damage to the nerves in the arms and legs (peripheral neuropathy), which can cause numbness, tingling, and weakness. There is currently no cure for MNGIE, but treatments are available to manage symptoms and slow the disease. Nutritional support, enzyme replacement approaches, and stem cell transplantation are among the options being used or studied. Early diagnosis and careful medical management can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Severe nausea and vomitingBloating and abdominal pain after eatingDifficulty absorbing food leading to significant weight lossDrooping eyelids (ptosis)Weakness or paralysis of eye muscles causing double visionHearing lossNumbness, tingling, or weakness in the hands and feet (peripheral neuropathy)Extreme fatigue and low energyMuscle weaknessSlow or stopped movement of food through the intestines (intestinal dysmotility)Diarrhea or constipationDifficulty swallowingWhite matter changes in the brain (seen on MRI)
Clinical phenotype terms (48)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mitochondrial neurogastrointestinal encephalomyopathy.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mitochondrial neurogastrointestinal encephalomyopathy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage is my MNGIE at, and how quickly might it progress?,Am I a candidate for stem cell transplantation, and what are the risks and benefits for me specifically?,What nutritional support do I need right now, and will I need tube feeding or IV nutrition?,Are there any clinical trials for MNGIE that I should consider joining?,Should my siblings and parents be tested for the TYMP gene mutation?,What specialists should be part of my care team, and how often should I be seen?,What warning signs should prompt me to go to the emergency room?
Common questions about Mitochondrial neurogastrointestinal encephalomyopathy
What is Mitochondrial neurogastrointestinal encephalomyopathy?
Mitochondrial neurogastrointestinal encephalomyopathy, often called MNGIE (pronounced 'min-gee'), is a rare inherited disease that affects the mitochondria — the tiny power plants inside your cells. When mitochondria do not work properly, many parts of the body can be affected, especially the digestive system, nerves, muscles, and brain. MNGIE is caused by changes (mutations) in a gene called TYMP, which leads to a buildup of toxic substances called thymidine and deoxyuridine in the blood and tissues. Over time, these substances damage the mitochondria throughout the body. The most noticeable
How is Mitochondrial neurogastrointestinal encephalomyopathy inherited?
Mitochondrial neurogastrointestinal encephalomyopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Mitochondrial neurogastrointestinal encephalomyopathy?
2 specialists and care centers treating Mitochondrial neurogastrointestinal encephalomyopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.