Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

Neurology. 1994 Apr;44(4):721-7. doi: 10.1212/wnl.44.4.721.


We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. Brain MRI scans were consistent with leukodystrophy in seven patients examined. Nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process. Muscle mitochondrial enzyme analysis revealed a partial defect of cytochrome c oxidase activity in five patients; three had additional respiratory chain enzyme defects. Two patients had isolated complex I defects, and one had normal respiratory chain function. Southern blot analysis revealed multiple deletions of mitochondrial DNA in four of eight patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • DNA, Mitochondrial / analysis
  • Female
  • Gastrointestinal Diseases / physiopathology*
  • Gene Deletion
  • Genes, Recessive
  • Humans
  • Male
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / physiopathology*
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology
  • Muscular Diseases / physiopathology*
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / physiopathology*
  • Peripheral Nervous System Diseases / genetics
  • Peripheral Nervous System Diseases / physiopathology*
  • Polymerase Chain Reaction


  • DNA, Mitochondrial