ArticleMolecular genetics and metabolism reports2016
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04176523 (Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®), which is not on this map. Cited by 18 papers, 2 of them syntheses 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.
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.
Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled it
- Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.Orphanet journal of rare diseases · 2021Trial
- Disturbances of Mitochondrial Functions and Oxidative Stress Induction in Methylmalonic and Propionic Acidemias: A Critical Role for Metabolite Accumulation.International journal of molecular sciences · 2026Review
- Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study.Orphanet journal of rare diseases · 2026Observational
- [N-carbamylglutamate in the treatment of neonatal organic acidemia crisis: a report of five cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.Orphanet journal of rare diseases · 2024Review
- Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.JIMD reports · 2024Article
- Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.Drugs in R&D · 2024Observational
- Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy.Molecular genetics & genomic medicine · 2023Article
- Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.Molecular genetics and metabolism reports · 2021Article
- Article
- Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.Case reports in pediatrics · 2020Article
- Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet journal of rare diseases · 2018Review
- Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.Journal of medical case reports · 2018Article
- Dietary practices in propionic acidemia: A European survey.Molecular genetics and metabolism reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe effect of long-term N-carbamylglutamate (NCG) treatment on the rate and severity of decompensations due to propionic aciduria (PA) and methylmalonic aciduria (MMA) is unknown. This paper presents clinical experience from a single-centre cohort of patients with PA and MMA who received continuous long-term treatment with NCG.
methodsThe effect of oral NCG treatment (initial dose: 50 mg/kg/day) was investigated in patients with PA or MMA who were experiencing frequent progressive episodes of metabolic decompensation, who had pathological levels of ammonia, and who were referred to the Division of Metabolic Diseases, University Hospital of Padova between August 2014 and December 2015. Clinical and biochemical data, including the number of metabolic decompensations, lactic acid, uric acid and plasma ammonia levels, protein intake and body weight, were collected before and after the initiation of NCG treatment.
resultsEight patients with PA (n = 4) and MMA (n = 4) aged 2-20 years were treated with NCG (50 mg/kg/day) for 7-16 months. Metabolic decompensation episodes decreased in number and severity, with three of the patients having no episodes (pre-treatment: 24 episodes; post-treatment: 9 episodes). After NCG treatment, all episodes were treated at home and none required hospitalisation, lactic acid values were 1.3-2.1 mmol/L and uric acid values were 0.21-0.36 mmol/L. Significant reductions in blood ammonia levels after NCG initiation were observed in five patients, whereas levels were reduced or maintained in the normal range in the remainder. Over the treatment period, patients had an increase in natural protein intake of 20-50% and gained 0-6.5 kg in bodyweight.
conclusionThese observations suggest that, in addition to short-term benefits for the acute treatment of hyperammonaemia, NCG may be effective and well tolerated as a long-term treatment in patients with severe PA and MMA, and that further prospective studies are warranted.
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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.