Pôle de neurosciences cliniques, service de neurologie, Assistance publique Hôpitaux de Marseille, CHU Timone, 264, rue St Pierre, 13005 Marseille, France.
Pôle de neurosciences cliniques, service de neurologie, Assistance publique Hôpitaux de Marseille, CHU Timone, 264, rue St Pierre, 13005 Marseille, France.
Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.
We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m.15579A>G, p.Tyr278Cys and m.15045G>A p.Arg100Gln), which presented as a pure myopathic form (exercise intolerance), with an onset in childhood. Diagnosis was delayed, because acylcarnitine profile showed an increase in medium and long-chain acylcarnitines, suggestive of multiple acyl-CoA dehydrogenase deficiency, riboflavin transporter deficiency or FAD metabolism disorder. Implication of cytochrome b in fatty acid oxidation, and physiopathology of the mutations are discussed.
我们描述了两名患有编码细胞色素 b 的基因突变的患者（m.15579A>G，p.Tyr278Cys 和 m.15045G>A p.Arg100Gln），他们表现出纯肌病形式（运动不耐受），发病于儿童期。由于酰基辅酶 A 谱显示中链和长链酰基辅酶 A 增加，提示存在多种酰基辅酶 A 脱氢酶缺乏症、核黄素转运蛋白缺乏症或 FAD 代谢障碍，因此诊断被延迟。细胞色素 b 在脂肪酸氧化中的作用以及突变的病理生理学进行了讨论。
