MNGIE: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
MNGIE: clinical features. This is caused by mutations in the thymidine phosphorylase (TYMP) gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the thymidine phosphorylase (TYMP) gene
- The gene encodes thymidine phosphorylase
- The transmission is autosomal recessive
Onset and course
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Neurological features
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Cardinal features
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Gastrointestinal features
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Ophthalmic features
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Other features
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Gastrointestinal differential diagnosis
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Neurological differential diagnosis
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Acronym
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References
- Hirano M, Carelli V, De Giorgio R, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis 2021; 44:376-387.
- Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011; 134:3326-3332.
- Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44:721-727.
- Bedlack RS, Vu T, Hammans S, et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 2004; 29:364-368.
- Needham M, Duley J, Hammond S, Herkes GK, Hirano M. Sue CM. Mitochondrial disease mimicking Charcot–Marie Tooth disease. JNNP 2007; 78:99–100.
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