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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.
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Afshin Borhani Haghighi, Ali Nabavizadeh, Jörn Oliver Sass, Anahid Safari, Kamran B. Lankarani |
| Parent Title (English): | Archives of Iranian Medicine |
| Volume: | 12 |
| Issue: | 6 |
| First Page: | 588 |
| Last Page: | 590 |
| ISSN: | 1029-2977 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/19877753 |
| Publication year: | 2009 |
| Departments, institutes and facilities: | Institut für funktionale Gen-Analytik (IFGA) |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2018/08/18 |
