Mitochondrial neurogastrointestinal encephalomyopathy.
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase gene leads to mitochondrial genomic dysfunction. Herein, we report a 29-year-old Iranian man with abdominal pain, diarrhea, hearing loss, ophthalmoplegia, sensorimotor axonal neuropathy, and elevated muscle enzymes. Magnetic resonance imaging showed leukoencephalopathic changes. Metabolite analysis revealed a very high thymidine concentration in the patient's urine consistent with the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.
Borhani Haghighi
Afshin
A
Comparative Medicine Research Center and Departments of Neurology, Nemazee Hospital, Shiraz, Iran. borhanihaghighi@yahoo.com
Nabavizadeh
Ali
A
Sass
Jörn Oliver
JO
Safari
Anahid
A
Lankarani
Kamran B
KB
D000328:Adult; D005767:Gastrointestinal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D013936:Thymidine / Q000652:urine; D013939:Thymidine Phosphorylase / Q000235:genetics*
C543750:TYMP protein, human; D013939:Thymidine Phosphorylase; D013936:Thymidine