深度内源性ETFDH变异在多重-CoA脱酶缺乏症中代表了一种反复发生的病原性事件
Stefania Martino1, Pietro D'Addabbo2, Antonella Turchiano1
1Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.
International journal of molecular sciences
|September 14, 2024
概括
多重乙-CoA脱酶缺乏症 (MADD) 是一种罕见的代谢障碍,在新生儿中使用全基因组和RNA测序来诊断. 这种方法确定了ETFDH基因的深层内基突变,这对于诊断MADD至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 分子生物学分子生物学
背景情况:
- 多重乙-CoA脱酶缺乏症 (MADD) 是一种罕见的遗传代谢障碍,影响脂肪酸和氨基酸氧化.
- 它呈现出不同的表型,从严重的新生儿发病到较温和的晚期发病形式,通过生物化学分析诊断.
- 遗传基础涉及ETFA,ETFB和ETFDH基因的突变,但一些患者仍未被诊断出来.
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