RT Journal Article
SR Electronic
T1 Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)
JF Practical Neurology
JO Pract Neurol
FD BMJ Publishing Group Ltd
SP 43
OP 47
DO 10.1136/practneurol-2020-002558
VO 21
IS 1
A1 Simon R Hammans MD
YR 2021
UL http://pn.bmj.com/content/21/1/43.abstract
AB 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.