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pyruvate dehydrogenase complex (PDHC) deficiency
释义
pyruvate dehydrogenase complex (PDHC) deficiency
丙酮酸脱氢酶复合物(PDHC)缺乏症:一种与PDHC有关的先天性代谢障碍。PDHC催化丙酮酸氧化为CO2和乙酰辅酶A。该症的主要临床异常在神经系统,引起运动失调性脑病和精神运动性阻滞;严重的婴儿病例以乳酸性酸中毒最突出
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更新时间:2025/9/3 12:27:22