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

Michio Hirano, G. Silvestri, D. M. Blake, A. Lombes, C. Minetti, E. Bonilla, A. P. Hays, R. E. Lovelace, I. Butler, T. E. Bertorini, A. B. Threlkeld, H. Mitsumoto, L. M. Salberg, L. P. Rowland, S. DiMauro

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367 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)721-727
Number of pages7
JournalNeurology
Volume44
Issue number4
DOIs
StatePublished - Apr 1994

ASJC Scopus subject areas

  • Clinical Neurology

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    Hirano, M., Silvestri, G., Blake, D. M., Lombes, A., Minetti, C., Bonilla, E., Hays, A. P., Lovelace, R. E., Butler, I., Bertorini, T. E., Threlkeld, A. B., Mitsumoto, H., Salberg, L. M., Rowland, L. P., & DiMauro, S. (1994). Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology, 44(4), 721-727. https://doi.org/10.1212/wnl.44.4.721