CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia
Provisionally accepted
- 1Zhejiang Provincial People's Hospital, Hangzhou, China
- 2Qianxi People's Hospital, Bijie, China
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Carglumic acid, an orphan drug derived from N-acetylglutamate, activates rate-limiting enzymes in the urea cycle, thereby facilitating ammonia clearance and detoxification. It is an important treatment option for hyperammonemia resulting from rare urea cycle disorders; however, clinical experience with its use in neonatal hyperammonemia remains limited. Herein, we report a 10-day-old girl with hyperammonemia secondary to methylmalonic acidemia (MMA) who experienced a rebound in plasma ammonia levels after a reduction in dialysis replacement fluid. A rapid decrease in ammonia levels was observed on the second day following the administration of carboglumic acid (200 mg/kg/day) during acute management. During a long-term follow-up of 1 year with low-dose maintenance (50 mg/kg/day) therapy, her plasma ammonia levels remained within acceptable ranges, and she exhibited normal neurodevelopment and growth. This case highlights that carglumic acid may be a promising therapeutic option for both acute and long-term management of hyperammonemia secondary to MMA in neonates, potentially helping to prevent irreversible neurological damage.
Keywords: carglumic acid, Hyperammonemia, Methylmalonic acidemia, metabolic acidosis, neonate
Received: 21 Jun 2025; Accepted: 31 Oct 2025.
Copyright: © 2025 Yu, Ma, Luo, Zhang, Xu, Shi and Shi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Diao Yu, yd15559629286@163.com
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