MNGIE: clinical features
Evidence-based neurology checklist on mngie: clinical features: 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 Neurological features Cardinal features Gastrointestinal…
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
Neurological features
Cardinal features
Gastrointestinal features
Ophthalmic features
Other features
Gastrointestinal differential diagnosis
Neurological differential diagnosis
Acronym
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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