Kiykim Ertugrul, Oguz Ozge, Duman Cisem, Zubarioglu Tanyel, Cansever Mehmet Serif, Zeybek Ayse Cigdem Aktuglu
Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul, Turkey.
Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Turkey.
Mol Genet Metab Rep. 2021 Jan 30;26:100715. doi: 10.1016/j.ymgmr.2021.100715. eCollection 2021 Mar.
Classic organic acidurias (OAs) usually characterized by recurrent episodes of acidemia, ketonuria, and hyperammonemia leading to coma and even death if left untreated. Acute hyperammonemia episodes can be treated effectively with N-carbamylglutamate (NCG). The effect of the long-term efficacy of N-carbamylglutamate is little known.
MATERIAL-METHODS: This retrospective study was conducted at Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Pediatric Nutrition and Metabolism Clinic between January 2012 to January 2018. Patients with classic OAs were enrolled in the study. Patients' ammonia levels, hospitalization needs, hyperammonemia episodes, and management of hyperammonemia were recorded. NCG usage for more than consecutively 15 days was considered as a long-term treatment.
Twenty-one patients, consisting of eleven patients with methylmalonic acidemia (MMA) and ten patients with propionic acidemia (PA) were eligible for the study. N-carbamylglutamate was used as ammonia scavenger for a total of 484 months with a median period of 23 months (min-max: 3-51 months) in all patients. A significant decrease in plasma ammonia levels was detected during long term NCG treatment (55.31 ± 13.762 μmol/L) in comparison with pre NCG treatment period (69.64 ± 17.828 μmol/L) ( = 0.021). Hospitalization required hyperammonemia episodes decreased with NCG treatment ( = 0.013). In addition, hyperammonemia episodes were also successfully treated with NCG ( = 0.000). Mean initial and final ammonia levels at the time of hyperammonemia episodes were 142 ± 46.495 μmol/L and 42.739 ± 12.120 μmol/L, respectively. The average NCG dosage was 85 mg/kg/day (range 12.5-250 mg/kg/day). No apparent side effects were observed.
N-Carbamylglutamate may be deemed an effective and safe treatment modality in the chronic management of hyperammonemia in patients with PA and MMA.
典型的有机酸血症（OAs）通常表现为反复发生的酸血症、酮尿症和高氨血症，如果不治疗，可导致昏迷甚至死亡。急性高氨血症发作可用N-氨甲酰谷氨酸（NCG）有效治疗。NCG长期疗效鲜为人知。
这项回顾性研究于2012年1月至2018年1月在伊斯坦布尔大学-塞拉哈帕夏医学院儿科营养与代谢诊所进行。纳入典型OAs患者进行研究。记录患者的氨水平、住院需求、高氨血症发作情况及高氨血症的处理。连续使用NCG超过15天被视为长期治疗。
21例患者符合研究条件，其中11例为甲基丙二酸血症（MMA）患者，10例为丙酸血症（PA）患者。所有患者中，NCG作为氨清除剂共使用484个月，中位使用时间为23个月（最小值-最大值：3-51个月）。与NCG治疗前（69.64±17.828μmol/L）相比，长期NCG治疗期间血浆氨水平显著降低（55.31±13.762μmol/L）（P=0.021）。NCG治疗使因高氨血症发作而需要住院的情况减少（P=0.013）。此外，NCG也成功治疗了高氨血症发作（P=0.000）。高氨血症发作时的平均初始和最终氨水平分别为142±46.495μmol/L和42.739±12.120μmol/L。NCG平均剂量为85mg/kg/天（范围12.5-250mg/kg/天）。未观察到明显副作用。
N-氨甲酰谷氨酸在PA和MMA患者高氨血症的长期管理中可能被视为一种有效且安全的治疗方式。
