Gebhardt Boris, Vlaho Stefan, Fischer Doris, Sewell Adrian, Böhles Hansjosef
Department of General Pediatrics, Johann Wolfgang Goethe University of Frankfurt a.M., D-60590 Frankfurt, Germany.
Mol Genet Metab. 2003 Aug;79(4):303-4. doi: 10.1016/s1096-7192(03)00095-7.
In patients with methylmalonic aciduria (MMA), the accumulating metabolite propiony-CoA results in an inhibition of the urea circle via the decreased synthesis of N-acetylglutamate, an essential activator of carbamylphosphat synthetase (CPS). This results in one of the major clinical problems which is hyperammonaemia. In a patient with decompensated MMA, the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl-CoA-induced hyperammonaemia. Oral carbamylgutamate administration resulted in an impressive increase in ammonia detoxification compared to peritoneal dialysis. Safe, fast and easy to administer, carbamylglutamate improves the acute therapy of decompensated MMA by increasing ammonia detoxification and avoiding hyperammonaemia.
在患有甲基丙二酸尿症（MMA）的患者中，积累的代谢产物丙酰辅酶A通过减少N-乙酰谷氨酸的合成来抑制尿素循环，N-乙酰谷氨酸是氨甲酰磷酸合成酶（CPS）的一种必需激活剂。这导致了主要临床问题之一——高氨血症。在一名失代偿性MMA患者中，测试了CPS激活剂氨甲酰谷氨酸对抗丙酰辅酶A诱导的高氨血症的能力。与腹膜透析相比，口服氨甲酰谷氨酸导致氨解毒能力显著提高。氨甲酰谷氨酸安全、快速且易于给药，通过增加氨解毒和避免高氨血症改善了失代偿性MMA的急性治疗。
