丙酮酸羧化酶缺乏症
Pyruvate carboxylase deficiency.
作者信息
Bartlett K, Ghneim H K, Stirk J H, Dale G, Alberti K G
出版信息
J Inherit Metab Dis. 1984;7 Suppl 1:74-8. doi: 10.1007/BF03047379.
PMID:6434849
Abstract
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.
摘要
本文概述了先天性乳酸性酸中毒的病因。通过一个近期病例报告及对生化后果的讨论，详细回顾了孤立性丙酮酸羧化酶缺乏症。还描述了丙酮酸羧化缺陷的其他病因，尤其是联合羧化酶缺陷。
Zotero 插件