ArticleTherapeutics and clinical risk management2011
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
Article in Therapeutics and clinical risk management, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Drug treatment of inborn errors of metabolism: a systematic review.Archives of disease in childhood · 2013Pooled it
- Gut Microbiota-Derived Short-Chain Fatty Acids Driven by N-Carbamylglutamate Alleviates Premature Ovarian Failure Through Suppressing Ferroptosis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Carglumic acid and mesalazine as potential anti-mycobacterial agents: a spectroscopic study for repurposing drugs againstMicrobiology spectrum · 2025Article
- A Pair of Promiscuous Surrogates forBiochemistry · 2025Article
- How Do Modulators Affect the Orthosteric and Allosteric Binding Pockets?ACS chemical neuroscience · 2022Article
- Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Human mutation · 2021Article
- Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.Frontiers in aging neuroscience · 2021Review
- Irritability, Poor Feeding and Respiratory Alkalosis in Newborns: Think about Metabolic Emergencies. A Brief Summary of Hyperammonemia Management.Pediatric reports · 2020Article
- Integrated Computational Approaches and Tools forAllosteric Drug Discovery.International journal of molecular sciences · 2020Review
- Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia.Case reports in pediatrics · 2020Article
- Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet journal of rare diseases · 2018Review
- N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.Scientific reports · 2018Article
- Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.International journal of molecular sciences · 2018Review
- Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery.Orphanet journal of rare diseases · 2017Article
- Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.Molecular genetics and metabolism reports · 2016Article
- Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.Orphanet journal of rare diseases · 2016Observational
- Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.Expert review of endocrinology & metabolism · 2016Article
- A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.Journal of human genetics · 2015Article
- Carglumic acid promotes apoptosis and suppresses cancer cell proliferation in vitro and in vivo.American journal of cancer research · 2015Article
- Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.European journal of pediatrics · 2014Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The product of NAGS is N-acetylglutamate which is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1. In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. NAGS deficiency can be treated with a structural analog of N-acetylglutamate, N-carbamyl-L-glutamate, which is available for enteral use as a licensed drug. Since NAGS deficiency is an extremely rare disorder, reports on the use of N-carbamyl-L-glutamate are mainly based on single patients. According to these, the drug is very effective in treating acute hyperammonemia by avoiding the need for detoxification during the acute metabolic decompensation. Also during long-term treatment, N-carbamyl-L-glutamate is effective in maintaining normal plasma ammonia levels and avoiding the need for additional drug therapy or protein-restricted diet. Open questions remain which concern the optimal dosage in acute and long-term use of N-carbamyl-L-glutamate and potential additional disorders in which the drug might also be effective in treating acute hyperammonemia. This review focuses on the role of N-carbamyl-L-glutamate for the treatment of acute hyperammonemia due to primary NAGS deficiency but will briefly discuss the current knowledge on the role of N-carbamyl-L-glutamate for treatment of secondary NAGS deficiencies.
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