Mitochondrial neurogastrointestinal encephalopathy syndrome

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Mitochondrial neurogastrointestinal encephalopathy syndrome
Classification and external resources
ICD-9 277.87
OMIM 603041
DiseasesDB 32948
GeneReviews

Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome,[1] is a rare autosomal recessive[2] mitochondrial disease usually appearing between the second and fifth decades of life. 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.[1] A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.[1]

Signs and symptoms[edit]

MNGIE is a multisystem disorder. Gastrointestinal symptoms may include gastrointestinal dysmotility, possibly resulting in pseudo-obstruction in which the muscular contractions (peristalsis) of the gastrointestinal tract become inefficient, causing malabsorption . Borborygmi (stomach rumbling), early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, diverticulitis. Neurological symptoms may include diffuse leukoencephalopathy, peripheral neuropathy, and myopathy. Ocular symptoms may include retinal degeneration, ophthalmoplegia (paralysis of eye muscles), ptosis (drooping eyelids). Those with MNGIE are often thin, experiencing continuous weight loss.

References[edit]

  1. ^ a b c Online 'Mendelian Inheritance in Man' (OMIM) 603041
  2. ^ Taanman, J. W.; Daras, M.; Albrecht, J.; Davie, C. A.; Mallam, E. A.; Muddle, J. R.; Weatherall, M.; Warner, T. T.; Schapira, A. H. V.; Ginsberg, L. (Feb 2009). "Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Neuromuscular Disorders 19 (2): 151–154. doi:10.1016/j.nmd.2008.11.002. PMID 19056268.  edit