Mitochondrial neurogastrointestinal encephalopathy disease, or MNGIE, is a condition that impacts various parts of the body, such as the digestive system, nerves, brain, and eyes.
Symptoms usually start around 18 years old, but they can appear anywhere from 5 months to 40 years. Digestive problems and eye issues are often the first signs, including diarrhea, abdominal pain, nausea, difficulty swallowing, and muscle weakness in the eyes. Nerve damage may cause numbness, weakness, cramps, or hearing loss. Some individuals also develop brain abnormalities, leading to cognitive issues, seizures, or headaches. While there’s no cure for MNGIE, symptoms can be managed. Swallowing difficulties can be addressed, and medications may help with nausea and nerve-related symptoms. Nutritional support through a feeding tube and therapy to maintain mobility can also be beneficial.
MNGIE is caused by pathogenic (disease-causing) variants in the TYMP gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Sephardic Jewish descent have a 1 in 158 chance to be a carrier.
Other names for this condition are mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction, MNGIE syndrome, myoneurogastrointestinal encephalopathy syndrome, oculogastrointestinal muscular dystrophy, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, and thymidine phosphorylase deficiency.