Abstract

例1,男,10岁,以“间断恶心、呕吐3个月,加重 3 d”起病。临床表现为间断恶心、呕吐伴乏力、腹痛、头晕、肝功能异常、脑电图异常。例2,女,4岁,为例1胞妹,无临床表型。2例患儿基因检测均为ETFDH基因错义变异,核苷酸变化为c.1369 T>C、c.1851 G>A,氨基酸改变p.S457P、p.M617I,诊断为多种酰基辅酶A脱氢酶缺乏症。.

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