Siekmeyer Manuela, Petzold-Quinque Stefanie, Terpe Friederike, Beblo Skadi, Gebhardt Rolf, Schlensog-Schuster Franziska, Kiess Wieland, Siekmeyer Werner
Department of Women and Child Health, University Hospital, University of Leipzig, Leipzig, Germany.
J Pediatr Endocrinol Metab. 2013;26(5-6):569-74. doi: 10.1515/jpem-2012-0148.
The tricarboxylic acid (TCA) cycle represents the key enzymatic steps in cellular energy metabolism. Once the TCA cycle is impaired in case of inherited metabolic disorders, life-threatening episodes of metabolic decompensation and severe organ failure can arise. We present the case of a 6 ½-year-old girl with propionic acidaemia during an episode of acute life-threatening metabolic decompensation and severe lactic acidosis. Citric acid given as an oral formulation showed the potential to sustain the TCA cycle flux. This therapeutic approach may become a treatment option in a situation of acute metabolic crisis, possibly preventing severe disturbance of energy metabolism.
三羧酸（TCA）循环是细胞能量代谢中的关键酶促步骤。一旦在遗传性代谢紊乱的情况下TCA循环受损，就可能出现危及生命的代谢失代偿发作和严重器官衰竭。我们报告了一名6岁半患有丙酸血症的女孩，处于急性危及生命的代谢失代偿和严重乳酸酸中毒发作期间。口服柠檬酸制剂显示出维持TCA循环通量的潜力。这种治疗方法可能成为急性代谢危机情况下的一种治疗选择，有可能预防能量代谢的严重紊乱。
