ReviewThe Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques2013
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.
Review in The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled it
- The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency.Orphanet journal of rare diseases · 2024Article
- Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management.JIMD reports · 2023Article
- Fifteen years of urea cycle disorders brain research: Looking back, looking forward.Analytical biochemistry · 2022Review
- Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.Human mutation · 2021Article
- Management of late onset urea cycle disorders-a remaining challenge for the intensivist?Annals of intensive care · 2021Review
- 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
- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.JIMD reports · 2017Article
- N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.Molecular genetics and metabolism reports · 2016Article
- Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.Expert review of endocrinology & metabolism · 2016Article
- Guidelines for acute management of hyperammonemia in the Middle East region.Therapeutics and clinical risk management · 2016Article
- 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
7 authors at 3 institutions in 2 countries.
Funding
Abstract
N-acetyl-glutamate synthase (NAGS) deficiency is a rare autosomal recessive urea cycle disorder (UCD) that uncommonly presents in adulthood. Adult presentations of UCDs include; confusional episodes, neuropsychiatric symptoms and encephalopathy. To date, there have been no detailed neurological descriptions of an adult onset presentation of NAGS deficiency. In this review we examine the clinical presentation and management of UCDs with an emphasis on NAGS deficiency. An illustrative case is provided. Plasma ammonia levels should be measured in all adult patients with unexplained encephalopathy, as treatment can be potentially life-saving. Availability of N-carbamylglutamate (NCG; carglumic acid) has made protein restriction largely unnecessary in treatment regimens currently employed. Genetic counselling remains an essential component of management of NAGS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.