Pyruvate dehydrogenase E2-alpha deficiency

丙酮酸脱氢酶 E2-α 缺乏症

英文解释

Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome. The great majority of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene.

中文解释

丙酮酸脱氢酶 (PDH) 复合物的缺陷是原发性乳酸酸中毒的重要原因。它还可以表现为更慢性的神经退行性疾病，伴有广泛的脑萎缩和大脑结构异常，如 Leigh 综合征。绝大多数 PDH 复合体缺陷是由 X 连锁丙酮酸脱氢酶 (E1) α 亚基基因突变引起的。

参考文献

[1]. Lissens, W et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.Hum Mutat. 2000;15(3):209-19.