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From Wikipedia, the free encyclopedia
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease[2]. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome[3]. The disease presents in childhood, but often goes unnoticed for decades[2][4][5]. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase[5][2]. Mutations in this gene result in impaired mitochondrial function, leading to intestinal symptoms as well as neuro-opthalmologic abnormalities[2][4]. A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene[3].