Trial reportThe Journal of pediatrics2014
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
Trial report in The Journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled it
- Post-meal loss of consciousness in an adult patient with carbamoyl phosphate synthetase 1 deficiency and two newly identified heterozygous variants: a case report.BMC neurology · 2026Article
- Current Treatment Modalities for Urea Cycle Disorders.Paediatric drugs · 2025Review
- Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools.Molecular genetics and metabolism reports · 2025Article
- Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.Molecular therapy. Nucleic acids · 2025Article
- Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.Journal of pediatric endocrinology & metabolism : JPEM · 2023Article
- Acute Encephalopathy Caused by Inherited Metabolic Diseases.Journal of clinical medicine · 2023Review
- Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.Molecular genetics and metabolism reports · 2022Article
- O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.Nature communications · 2022Article
- Understanding Inborn Errors of Metabolism through Metabolomics.Metabolites · 2022Review
- CPS1: Looking at an ancient enzyme in a modern light.Molecular genetics and metabolism · 2020Review
- Primary hyperammonaemia: Current diagnostic and therapeutic strategies.Journal of mother and child · 2020Review
- Therapeutic effect ofMolecular genetics and metabolism reports · 2020Article
- Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.Journal of clinical laboratory analysis · 2020Article
- Article
- Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.Journal of clinical laboratory analysis · 2018Article
- Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.American journal of physiology. Endocrinology and metabolism · 2017Article
- Article
- Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.Molecular genetics and metabolism · 2017Article
- Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.Expert review of endocrinology & metabolism · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Identical studies using stable isotopes were performed before and after a 3-day trial of oral N-carbamyl-l-glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement in nitrogen metabolism with long-term NCG administration in 1 subject.
Indexed as
Identifiers
What OpenQuestion holds
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.