Mitochondrial neurogastrointestinal encephalopathy (MNGIE) in a South Indian family with two affected siblings
Santoshkumar, B.; Shenoy, K.T.; Radhakrishnan, K.; Radhakrishnan, V.V.
Neurology India 45(2): 87-90
1997
ISSN/ISBN: 0028-3886 PMID: 29512578 Document Number: 17416
We report a South Indian family in which two living members were affected by a progressive neurogasrointestinal disorder characterized by dysmotility. Evidence for mitochondrial dysfunction was provided by increased arterial blood lactate, and ragged red fibres in muscle biopsy. Our report is believed to be the first description of the autosomal recessively inherited multisystem mitochondrial disease, mitochondrial neurogastrointestinal encephalopathy (MNGIE), from India.
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