丙酮酸脱氢酶复合物(pyruvate dehydrogenase complex，PDC)是糖代谢过程中所需的关键酶，能将丙酮酸转化成乙酰CoA进而完成三羧酸循环。PDC缺乏会造成丙酮酸代谢障碍，从而引起一系列临床表现如颅脑畸形、神经肌肉功能障碍、酸中毒等。目前临床报道的PDC缺乏症绝大部分是由X连锁的n PDHA1基因突变后PDC酶活性降低导致的。由于PDC缺乏症的发病率低，临床症状复杂，且多为个案报道，因此，本文主要针对n PDHA1基因突变后的致病机制、临床特点和治疗进行总结，加深对该疾病的认识。n “,”Pyruvate dehydrogenase complex (PDC) is a key rate-limiting enzyme for aerobic oxidation of glucose, which can turn pyruvate into acetyl-CoA to complete the tricarboxylic acid cycle.Pyruvate metabolism disturbance is caused by PDC deficiency, which brings a series of clinical manifestations such as brain malformation, neuromuscular dysfunction, acidosis, and so on.At present, the majority of clinical reports of PDC deficiency patients were caused by the decrease of PDC enzyme activities after the mutation of the X-linked n PDHA1 gene.PDC deficiency have low incidence and complex clinical symptoms.Mainly case reports have been described.Therefore, this article reviews pathogenic mechanisms, clinical characteristics, and treatments for PDC deficiency caused by n PDHA1 gene mutation to deepen the understanding of this disease.n