دورية أكاديمية
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis
| العنوان: | Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis |
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| المؤلفون: | Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015) |
| بيانات النشر: | Elsevier, 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis and mitochondrial DNA sequencing on muscle tissue lead to the eventual diagnosis of complex III deficiency. This case demonstrates the critical role of muscle biopsies in a myopathy work-up, and the clinical efficacy of supplement therapy. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426915300161; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2015.06.001 |
| URL الوصول: | https://doaj.org/article/9eb665720dd54638bbbe8baae626be02 |
| رقم الأكسشن: | edsdoj.9eb665720dd54638bbbe8baae626be02 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2015.06.001 |