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 ?
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. J Comput Assist Tomogr 2010;34:247-8.
As a result, lower-than-normal CoQ10 levels were observed in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a SMD and CoQ10 deficiency syndrome, a rare condition that causes MDF and includes a variety of clinical presentations as encephalomyopathy, ataxia, and renal failure [32, 33].
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [5] is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TP).
(f) CPEO, chronic progressive external ophthalmoplegia; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy (37); TP, thymidine phosphorylase.

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