Which are the symptoms of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?

Symptoms of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in the TYMP gene, which leads to the deficiency of an enzyme called thymidine phosphorylase. This enzyme is responsible for breaking down certain molecules in the body, and its deficiency results in the accumulation of toxic substances that damage various tissues.

Neurological Symptoms:

One of the primary features of MNGIE is the involvement of the nervous system. Patients may experience progressive neurological symptoms, including:

• Peripheral neuropathy: Nerve damage in the extremities can cause weakness, numbness, tingling, and pain.


• Myopathy: Muscle weakness and wasting can occur, leading to difficulties in mobility and coordination.


• Leukoencephalopathy: White matter abnormalities in the brain can cause cognitive decline, dementia, and movement disorders.


• Stroke-like episodes: Transient ischemic attacks (mini-strokes) can occur, resulting in temporary neurological deficits.

Gastrointestinal Symptoms:

MNGIE also affects the gastrointestinal system, leading to various digestive problems:

• Dysphagia: Difficulty swallowing can occur, making it challenging to eat and drink normally.


• Gastroesophageal reflux: Acid reflux and heartburn may be present.


• Malabsorption: Inability to absorb nutrients properly can lead to weight loss, malnutrition, and vitamin deficiencies.


• Diarrhea: Chronic diarrhea is a common symptom, which can be severe and persistent.

Other Symptoms:

MNGIE can also affect other systems in the body, leading to additional symptoms:

• Ophthalmoplegia: Weakness or paralysis of the eye muscles can cause double vision and difficulty moving the eyes.


• Hearing loss: Sensorineural hearing loss may occur, leading to difficulties in hearing and communication.


• Cardiomyopathy: The heart muscle can become weakened, resulting in heart failure and arrhythmias.


• Endocrine dysfunction: Hormonal imbalances may occur, affecting various aspects of metabolism and growth.

MNGIE is a progressive disorder, meaning that symptoms worsen over time. The age of onset and severity of symptoms can vary among individuals. Due to the multisystem involvement, MNGIE requires a multidisciplinary approach to management, involving neurologists, gastroenterologists, geneticists, and other specialists. Treatment options are limited, but supportive care and symptomatic management can help improve the quality of life for affected individuals.