TY  - JOUR
U1  - Wissenschaftlicher Artikel
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  -