Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn’s Disease: A Rare Cause of Malnutrition
| العنوان: | Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn’s Disease: A Rare Cause of Malnutrition |
|---|---|
| المؤلفون: | Jiří Dolina, Lenka Kučerová, Daniel Bartušek, Tomáš Honzík, Jan Mazanec, Lumír Kunovský, Milan Dastych |
| المصدر: | Journal of Gastrointestinal and Liver Diseases. 27:321-325 |
| بيانات النشر: | Romanian Society of Gastroenterology and Hepatology, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | medicine.medical_specialty, Crohn's disease, business.industry, Molecular genetic testing, 05 social sciences, Gastroenterology, Disease, Gene mutation, medicine.disease, Inflammatory bowel disease, 03 medical and health sciences, Malnutrition, 0302 clinical medicine, Anorexia nervosa (differential diagnoses), Internal medicine, 0502 economics and business, 030221 ophthalmology & optometry, medicine, 050211 marketing, Thymidine phosphorylase, business |
| الوصف: | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by a mutation in the TYMP gene encoding thymidine phosphorylase. MNGIE causes gastrointestinal and neurological symptoms in homozygous individuals and is often misdiagnosed as anorexia nervosa, inflammatory bowel disease, or celiac disease. We present the case of a 26-year-old female with MNGIE, who was initially diagnosed with anorexia nervosa and Crohn’s disease. The diagnosis of MNGIE was established by biochemical confirmation of elevated serum and urine thymidine and deoxyuridine levels after multiple examinations and several years of disease progression and ineffective treatment. Subsequent molecular genetic testing demonstrated a homozygous TYMP gene mutation. MNGIE should be considered in patients with unexplained malnutrition, intestinal dysmotility, and atypical neurological symptoms. |
| تدمد: | 1842-1121 1841-8724 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::b67e03c0b647b0ee48b78554a9343e28 https://doi.org/10.15403/jgld.2014.1121.273.kuc |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........b67e03c0b647b0ee48b78554a9343e28 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18421121 18418724 |
|---|