<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-opthalmologic abnormalities. A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.
Mitochondrial neurogastrointestinal encephalopathy syndrome
Korovnikov syndrome
Sandhoff disease
Havlikova syndrome
Vacinko syndrome
Wilson's temperature syndrome
Hashimoto's encephalopathy
Woodhouse-Sakati syndrome