Yap Sufin, Leong Huey Yin, Abdul Aziz Fadzlina, Hassim Haszlin, Sthaneshwar Pavai, Teh Ser Huy, Abdullah Ili Syazwana, Ngu Lock Hock, Mohamed Zulqarnain
Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, NHS Foundation Trust, Sheffield, UK.
Neonatology. 2016;109(4):303-7. doi: 10.1159/000443630. Epub 2016 Feb 24.
N-carbamylglutamate (NCG) has been used in combination with ammonia scavengers (sodium benzoate, sodium phenylbutyrate) and dialysis to treat hyperammonaemia in methylmalonic aciduria (MMA). The sole use of NCG for acute neonatal hyperammonaemia secondary to MMA is demonstrated in a neonate presenting at day 9 with encephalopathy, severe metabolic acidosis, hyperammonaemia (1,089 μmol/l), ketonuria and urinary methylmalonic acids. Emergency treatment included discontinuing protein feeds, providing high calories, carnitine and hydroxocobalamin. NCG 200 mg given at 0 and 90 min decreased plasma ammonia dramatically from 1,089 to 567 µmol/l at 90 min and further to 236 µmol/l at 6 h. Normalisation of ammonia was achieved at 12 h with two further doses of NCG 100 mg. This allowed for early re-institution of feeds at 14 h, followed by metabolic stabilization and recovery. Due to the effectiveness of NCG in this case, the use of the more invasive conventional ammonia-lowering therapeutic options could be avoided.
N-氨甲酰谷氨酸（NCG）已与氨清除剂（苯甲酸钠、苯丁酸钠）联合使用，并结合透析来治疗甲基丙二酸血症（MMA）中的高氨血症。在一名第9天出现脑病、严重代谢性酸中毒、高氨血症（1089μmol/L）、酮尿症和尿甲基丙二酸的新生儿中，证明了单独使用NCG治疗继发于MMA的急性新生儿高氨血症。紧急治疗包括停止蛋白质喂养、提供高热量、肉碱和羟钴胺素。在0和90分钟时给予200mg NCG，90分钟时血浆氨从1089μmol/L显著降至567μmol/L，6小时时进一步降至236μmol/L。再给予两剂100mg NCG后，12小时时氨恢复正常。这使得在14小时时能够早期重新开始喂养，随后代谢稳定并恢复。由于NCG在该病例中的有效性，避免了使用更具侵入性的传统降氨治疗方案。
