Mitochondrial neurogastrointestinal encephalopathy syndrome

Mitochondrial neurogastrointestinal encephalopathy syndrome, usually shortened to MNGIE, is a rare mitochondrial disease inherited in an autosomal recessive pattern. It was formerly called POLIP syndrome, an acronym for polyneuropathy, ophthalmoplegia, leukoencephalopathy and intestinal pseudoobstruction, which together describe its main features. The illness begins in childhood but often goes unrecognised for decades. Unlike the common mitochondrial diseases that arise from mutations in mitochondrial DNA, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase, and the resulting impairment of mitochondrial function produces both bowel symptoms and nerve and eye abnormalities. A secondary form, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.