TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Borhani Haghighi, Afshin A1 - Nabavizadeh, Ali A1 - Sass, Jörn Oliver A1 - Safari, Anahid A1 - Lankarani, Kamran B. T1 - Mitochondrial neurogastrointestinal encephalomyopathy JF - Archives of Iranian Medicine N2 - 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. Y1 - 2009 SN - 1029-2977 SS - 1029-2977 PM - 19877753 VL - 12 IS - 6 SP - 588 EP - 590 ER -