由于MT - CYB框内缺失导致的复合物III缺乏症，表现为酮症性低血糖和乳酸性酸中毒。
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.
作者信息
Mori Mari, Goldstein Jennifer, Young Sarah P, Bossen Edward H, Shoffner John, Koeberl Dwight D
机构信息
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Medical Center, Durham, NC, USA.
出版信息
Mol Genet Metab Rep. 2015 Jun 30;4:39-41. doi: 10.1016/j.ymgmr.2015.06.001. eCollection 2015 Sep.
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.
因MT - CYB突变导致的复合体III缺乏已在患有肌病的患者中被报道。在此，我们描述了一名15岁男孩，他出现了代谢性酸中毒、酮症性低血糖和肉碱缺乏。对肌肉组织进行电子传递链分析和线粒体DNA测序最终确诊为复合体III缺乏。该病例证明了肌肉活检在肌病检查中的关键作用以及补充疗法的临床疗效。
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