{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T06:31:21Z","timestamp":1764570681334,"version":"3.46.0"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Carglumic acid, an orphan drug derived from N-acetylglutamate, activates rate-limiting enzymes in the urea cycle, thereby promoting ammonia clearance and detoxification. Carglumic acid is a potent treatment option for hyperammonemia resulting from rare urea cycle disorders; however, clinical experience and data on its use in neonatal hyperammonemia remain limited. Herein, we report the case of a 10-day-old girl with hyperammonemia secondary to methylmalonic acidemia (MMA) who experienced a resurgence of plasma ammonia levels after a reduction in dialysis replacement fluid. A sharp decrease in ammonia levels was observed on the second day following the administration of carglumic acid (200\u2005mg\/kg\/day) during acute management. During a long-term follow-up of 1 year with low-dose maintenance (50\u2005mg\/kg\/day) therapy, her plasma ammonia levels remained within acceptable limits, accompanied by 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 facilitating prevention of irreversible neurological damage.<\/jats:p>","DOI":"10.3389\/fped.2025.1651216","type":"journal-article","created":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T06:24:25Z","timestamp":1764570265000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia"],"prefix":"10.3389","volume":"13","author":[{"given":"Qianli","family":"Ma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunfeng","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meijuan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,12,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e14953","DOI":"10.1111\/ped.14953","article-title":"Inherited 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trial","volume":"16","author":"Alfadhel","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"B8","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1001\/jamaneurol.2023.4387","article-title":"Reversible cortical and basal ganglia lesions in late-onset methylmalonic aciduria","volume":"81","author":"Chu","year":"2024","journal-title":"JAMA Neurol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision","volume":"42","author":"H\u00e4berle","year":"2019","journal-title":"J Inherit Metab Dis"},{"key":"B10","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/jimd.12617","article-title":"New insights into the pathophysiology of methylmalonic acidemia","volume":"46","author":"Head","year":"2023","journal-title":"J Inherit Metab Dis"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2593","DOI":"10.1007\/s10571-021-01156-6","article-title":"Hyperammonemia in inherited metabolic diseases","volume":"42","author":"Ribas","year":"2022","journal-title":"Cell Mol Neurobiol"}],"container-title":["Frontiers in 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