乳酸增高的遗传代谢病

Inborn errors of metabolism with increased lactic acid.

乳酸血症可发生于一些继发性或者遗传代谢病,虽然先天性代谢缺陷数量比较少,但它们代表了代谢性酸中毒一个重要的原因。丙酮酸是乳酸的惟一来源途径,临床上任何丙酮酸产生增加,分解减少或者打破这一平衡的因素都可以引起乳酸血症。病因包括了丙酮酸代谢障碍,糖原异生系统中的酶活性缺失和线粒体呼吸链紊乱。常见的临床表现包括:共济失调,运动失调,眼部运动失调,周围神经病变,肌张力低下,心脏损伤和生长发育迟缓。人体能量代谢需求旺盛的器官往往受累严重,临床上对原因不明的酸中毒同时合并多系统受累的病人应尽早行遗传代谢疾病的筛查。

Lactic acidosis can be present in a number of secondary or congenital metabolic diseases. Inborn errors of metabolism, although fewer in number, represent an important reason for metabolic acidosis. Lactic acid can be formed only from pyruvic acid, disorders which increase pyruvate production, inhibit its catabolism, or shift the equilibrium toward lactic acid formation cause lactic acidosis. The causes include pyruvate metabolism, glueoneogenesis systems lack of enzyme activity and mitochondrial respiratory chain disorders. Common clinical manifestations include： ataxia, eye movement disorders, peripheral neuropathy, hypotonia, cardiac damage and growth retardation. Organs highly demand for energy metabolism is often severely affected. Clinically unexplained acidosis and concomitant multi-system involvement should be as early as possible to screen of inherited metabolic diseases.