Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive condition. Deficiency of thymidine phosphorylase disrupts the nucleoside pool, with progressive secondary mitochondrial DNA damage. MNGIE is clinically diagnosable because of a distinctive tetrad of gastrointestinal dysmotility, progressive external ophthalmoplegia, demyelinating neuropathy and asymptomatic leucoencephalopathy. The diagnosis may be confirmed genetically or biochemically. Misdiagnosis is frequent, but early and accurate recognition allows the possibility of novel transplant therapies capable of rectifying the biochemical defects. Its management remains difficult in the face of progressive disability and the risks of treatment.
- Mitochondrial disorders
- metabolic disease
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Acknowledgements The author would like to thank the patient and their family for allowing publication of the figures.
Contributors Written by SRH.
Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; externally peer reviewed by Rhys Thomas, Newcastle-upon-Tyne, UK.