用二氯乙酸治疗的丙酮酸脱羧酶缺乏症男婴先天性乳酸性酸中毒的短暂改善

Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate.

作者信息

Tóth P P, el-Shanti H, Eivins S, Rhead W J, Klein J M

机构信息

Department of Obstetrics/Gynecology, University of Iowa, Iowa City 52242.

出版信息

J Pediatr. 1993 Sep;123(3):427-30. doi: 10.1016/s0022-3476(05)81751-2.

DOI:10.1016/s0022-3476(05)81751-2

PMID:8355121

Abstract

A comatose male newborn infant with congenital lactic acidosis caused by pyruvate decarboxylase deficiency was treated with dichloroacetate (DCA), which stimulated an 88% drop in serum lactate concentration and reversed his coma. The response to DCA was temporary and the lactic acidosis worsened until his death, but DCA may confer more lasting benefit in less severely affected infants.

摘要

一名患有丙酮酸脱羧酶缺乏所致先天性乳酸性酸中毒的昏迷男婴接受了二氯乙酸（DCA）治疗，治疗后血清乳酸浓度下降了88%，昏迷状态得以逆转。对DCA的反应是暂时的，乳酸性酸中毒不断恶化直至其死亡，但DCA可能会给病情较轻的婴儿带来更持久的益处。