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中文Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD)
Alias:
Pyruvate Dehydrogenase Deficiency
Pyruvate Decarboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pdhad
Pyruvate Dehydrogenase Complex Deficiency Disease
Pdh Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency
Ataxia with Lactic Acidosis I
Ataxia with Lactic Acidosis
Pdhc
Pdh
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism
Ataxia Intermittent with Abnormal Pyruvate Metabolism
Pdc - [pyruvate Dehydrogenase Complex] Deficiency
Pyruvate Dehydrogenase E1 Alpha Deficiency
Deficiency of Pyruvic Dehydrogenase
Ataxia with Lactic Acidosis 1
Ataxia with Lactic Acidosis 2
Pdhc Deficiency
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丙酮酸脱氢酶E1-α缺陷症，也称为丙酮酸脱氢酶缺陷症，与丙酮酸脱氢酶E3结合蛋白缺陷症和多发性线粒体功能障碍综合征有关，症状包括嗜睡、癫痫发作和鼻翼张开。与丙酮酸脱氢酶E1-α缺陷症有关的重要基因是PDHA1（丙酮酸脱氢酶E1亚基α1），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。在该疾病的背景下提到了草莓和丙酮酸。附属组织包括大脑和皮质，相关表型为肌张力减低和面部异常形状。
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MALACARDS
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