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.Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive
Multiple cranial nerve enhancement in
mitochondrial neurogastrointestinal encephalomyopathy. J Comput Assist Tomogr 2010;34:247-8.
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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