mitochondrial neurogastrointestinal encephalomyopathy

mitochondrial neurogastrointestinal encephalomyopathy

A rare, progressive autosomal recessive multisystem disorder (OMIM:603041) with an onset between the 2nd and 5th decades of life.

Findings
• 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.
 
Molecular pathology
Caused by mutations of thymidine phosphorylase (TYMP) (OMIM:131222), DNA polymerase gamma (POLG) (OMIM:174763), and gene RRM2B.
References in periodicals archive ?
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [5] is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TP).
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder.
f) CPEO, chronic progressive external ophthalmoplegia; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy (37); TP, thymidine phosphorylase.

Full browser ?