Levrat Virginie, Forest Isabelle, Fouilhoux Alain, Acquaviva Cécile, Vianey-Saban Christine, Guffon Nathalie
Centre de référence Maladies Héréditaires du Métabolisme, Service de Pédiatrie, Hôpital Edouard Herriot, Lyon, France.
Orphanet J Rare Dis. 2008 Jan 30;3:2. doi: 10.1186/1750-1172-3-2.
Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels encountered in MMA and PA crises.
We described two patients (one with MMA and one with PA) with hyperammonemia at diagnosis. Carglumic acid, when associated with standard treatment of organic acidurias, may be helpful in normalizing the ammonia level.
Even though the usual treatment which decreases toxic metabolites remains the standard, carglumic acid could be helpful in lowering plasma ammonia levels over 400 micromol/L more rapidly.
甲基丙二酸血症（MMA）和丙酸血症（PA）患者的高氨血症是由丙酰辅酶A的积累引起的，丙酰辅酶A的积累会减少N-乙酰谷氨酸（氨基甲酰磷酸合成酶1的天然激活剂）的合成。有人提出用N-乙酰谷氨酸的结构类似物卡谷氨酸进行治疗，以降低MMA和PA危象中出现的高氨水平。
我们描述了两名诊断时患有高氨血症的患者（一名患有MMA，一名患有PA）。卡谷氨酸与有机酸血症的标准治疗联合使用时，可能有助于使氨水平恢复正常。
尽管降低有毒代谢产物的常规治疗仍是标准治疗方法，但卡谷氨酸有助于更快地降低血浆氨水平至400微摩尔/升以上。
