mitochondrial neurogastrointestinal encephalomyopathy
mitochondrial neurogastrointestinal encephalomyopathyA rare, progressive autosomal recessive multisystem disorder (OMIM:603041) with an onset between the 2nd and 5th decades of life.
• Neurologic changes—diffuse leukoencephalopathy, polyneuropathy, progressive external ophthalmoplegia, ptosis, hearing loss (in descending order of occurrence).
• GI tract dysmotility—Chronic intestinal pseudo-obstruction (CIPO), small bowel diverticula, cachexia.
• Mitochondrial cytopathy in smooth muscle cells of the GI tract.
Caused by mutations of thymidine phosphorylase (TYMP) (OMIM:131222), DNA polymerase gamma (POLG) (OMIM:174763), and gene RRM2B.