Mitochondrial neurogastrointestinal encephalopathy syndrome

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Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE syndrome) is a rare, autosomal recessive mitochondrial disorder that affects the gastrointestinal tract and the nervous system. It is characterized by a combination of gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and ptosis.

Signs and Symptoms

Individuals with MNGIE syndrome typically present with a variety of symptoms, including:

• Severe gastrointestinal dysmotility leading to chronic diarrhea, vomiting, and abdominal pain
• Peripheral neuropathy causing muscle weakness and sensory disturbances
• Leukoencephalopathy which can be detected through magnetic resonance imaging (MRI)
• Ptosis and ophthalmoplegia
• Cachexia and severe weight loss

Genetics

MNGIE syndrome is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. This enzyme is crucial for the proper maintenance of mitochondrial DNA. Mutations in the TYMP gene lead to the accumulation of thymidine and deoxyuridine, which are toxic to mitochondria and result in mitochondrial dysfunction.

Diagnosis

The diagnosis of MNGIE syndrome is based on clinical evaluation, family history, and genetic testing. Elevated levels of thymidine and deoxyuridine in the blood and urine are indicative of the disorder. Magnetic resonance imaging (MRI) of the brain may show characteristic changes associated with leukoencephalopathy.

Treatment

There is currently no cure for MNGIE syndrome. Treatment is primarily supportive and focuses on managing symptoms. This may include:

• Nutritional support to address gastrointestinal symptoms and prevent malnutrition
• Medications to manage gastrointestinal motility
• Physical therapy to address muscle weakness and peripheral neuropathy

Prognosis

The prognosis for individuals with MNGIE syndrome is generally poor, with most patients experiencing a progressive decline in health. The disorder often leads to severe disability and can be life-threatening.

See Also

• Mitochondrial disease
• Peripheral neuropathy
• Leukoencephalopathy
• Gastrointestinal dysmotility
• Ptosis

External Links

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