<unk>  (MNGIE) is a rare autosomal recessive<unk>  disease. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease presents in childhood, but often goes unnoticed for decades. Unlike typical<unk>  diseases caused by<unk>  DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. Mutations in this gene result in impaired<unk>  function, leading to intestinal symptoms as well as neuro-ophthalmologic abnormalities. A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.
Mitochondrial neurogastrointestinal encephalopathy syndrome
Okamoto syndrome
Yushō disease
Morquio syndrome
Sandhoff disease
Sanjad-Sakati syndrome
Stratton Parker syndrome
Wilson's temperature syndrome