pediatrics
Mitochondrial Oxidative Phosphorylation Disorders
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
MNGIE is a very rare disorder characterized by degeneration of the muscles of the gastrointestinal (GI) tract, leading to poor motility of the GI tract and causing numerous GI symptoms. Additionally, weakness of the eye muscles as well as loss of sensation and weakness of the extremities due to degeneration of the peripheral nerves also occur. Onset is variable but usually before 20 years of age. gene, which encodes thymidine phosphorylase with secondary changes in mtDNA. Inheritance is Autosomal Recessive ; males and females are equally affected. Treatment is focused on management of symptoms. Long-term prognosis is poor, with mean age of death in the late 30s. 