N-carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia
N-carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia
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DOI：
10.1007/s10545-005-5260-7
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发表时间：
2005-01-01
影响因子：
4.2
通讯作者：
Bohles, H
中科院分区：
文献类型：
--
作者：
Gebhardt, B;Dittrich, S;Bohles, H
在丙酸尿症患者中，积累的代谢物丙酰辅酶A通过抑制N-乙酰谷氨酸合成而导致尿素循环紊乱。缺乏这种变构激活剂会导致氨基甲酰磷酸合酶 (CPS) 受到抑制。这最终导致高氨血症。在两名失代偿性丙酸尿症患者中，测试了 CPS 激活剂氨甲酰谷氨酸拮抗丙酰辅酶 A 相关高氨血症的能力。口服氨甲酰谷氨酸导致氨解毒显着增加，并且可以避免进一步的透析治疗。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，改善失代偿性丙酸尿症的急性治疗。
In patients with propionic aciduria, the accumulating metabolite propionyl-CoA causes a disturbance of the urea cycle via the inhibition of N-acetylglutamate synthesis. Lack of this allosteric activator results in an inhibition of carbamoylphosphate synthase (CPS). This finally leads to hyperammonaemia. In two patients with decompensated propionic aciduria the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl-CoA associated hyperammonaemia. Oral carbamyl glutamate administration resulted in a significant increase in ammonia detoxification and could avoid further dialysis therapy. Safe, fast and easy to administer, carbamyl glutamate improves the acute therapy of decompensated propionic aciduria by increasing ammonia detoxification and avoiding hyperammonaemia.