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核黄素反应性多种酰基辅酶A脱氢酶缺乏症 被引量：1

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摘要 核黄素反应性多种酰基辅酶A脱氢酶缺乏症（riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency,RRMADD）是由于缺乏ETF（electron transfer flavoprotein）和ETFDH（ETF dehydrogenase）而影响脂肪酸氧化、胆碱和氨基酸代谢,导致线粒体多种黄素蛋白脱氢酶功能障碍的一类常染色体隐性遗传性疾病.临床上通过特殊的实验室检查包括肌肉病理、基因诊断、血酰基肉碱、尿有机酸、肌酶和肌电图提供更为精确的诊断.
作者 伏红霞 朱润秀
机构地区 内蒙古自治区人民医院神经内科
出处 《中国医师杂志》 CAS 2015年第9期1438-1440,共3页 Journal of Chinese Physician
关键词 多酰基辅酶A脱氢酶缺乏 核黄素缺乏 综述
分类号 R596 [医药卫生—内科学]
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参考文献32

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二级参考文献12

  • 1毕学杰,薛春梅,薛平,朱秀慧,赵岩.姐弟同患脂质沉积性肌病[J].中华医学遗传学杂志,2007,24(2):240-240. 被引量：3
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  • 6Wen B, Dai T, Li W, et al. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutation [J]. J Neurol Neurosurg Psychiatry, 2010,81 : 231-236.
  • 7Wang ZQ, Chen XJ, Murong SX, et al. Molecular analysis of 51 unrelated pedigrees with late-onset multiple aeyl CoA dehydrogenase deficiency(MADD) in southern China confirmed the most common ETFDH mutation one high carrier frequency of c. 250GD>A[J]. J Mol Med, 2011, 89: 569-576.
  • 8Lan MY, Fu MH, Liu YF, et al. High frequency of ETFDH c. 250G>A mutation in Taiwan Residents patients with late onset lipid storgemyopathy[J]. Clin Genet, 2010, 78:565 -569.
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中国医师杂志
2015年 第9期

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