Anaplerotic agents for treatment of disorders of propionate and long chain fat metabolism
申请人:University of Pittsburgh—Of the Commonwealth System of Higher Education
公开号:US11083702B2
公开(公告)日:2021-08-10
Methods of treating propionic acidemia (PA), methylmalonic acidemia (MMA) and fatty acid oxidation disorders are described. The methods include administering an anaplerotic agent that can directly enter the tricarboxylic acid cycle, such as a succinate derivative or pro-drug, for example trisuccinylglycerol (TSG). Methods of restoring tricarboxylic acid (TCA) cycle function in a cell deficient for propionyl-CoA carboxylase (PCC) or methylmalonyl-CoA mutase (MUT) by contacting the cell with a succinate derivative or pro-drug, such as TSG, are also described.
描述了治疗丙酸血症(PA)、甲基丙二酸血症(MMA)和脂肪酸氧化紊乱的方法。这些方法包括施用可直接进入三羧酸循环的无机物,如琥珀酸衍生物或原药,例如三琥珀酰甘油(TSG)。此外,还介绍了通过使细胞与琥珀酸衍生物或原药(如 TSG)接触来恢复缺乏丙酰-CoA 羧化酶(PCC)或甲基丙二酰-CoA 突变酶(MUT)的细胞的三羧酸(TCA)循环功能的方法。