ArticleJournal of medical case reports2018
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
Article in Journal of medical case reports, 2018. 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 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.
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
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled 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
- 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
- Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation.Communications biology · 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
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- 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
- Clinical Course and Nutritional Management of Propionic and Methylmalonic Acidemias.Journal of nutrition and metabolism · 2020Article
- Article
- Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet journal of rare diseases · 2018Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPropionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 years in a patient with propionic acidemia frequently presenting with hyperammonemia. CASE PRESENTATION: A male Caucasian patient with frequently decompensated propionic acidemia and hyperammonemia was admitted 78 times for acute attacks during the first 9 years of his life. Continuous daily treatment with oral N-carbamylglutamate 100 mg/kg (50 mg/kg after 6 months) was initiated. During 6 years of treatment, he had a significant decrease in his mean plasma ammonia levels (75.7 μmol/L vs. 140.3 μmol/L before N-carbamylglutamate therapy, p < 0.005 [normal range 50-80 μmol/L]) and fewer acute episodes (two in 6 years).
conclusionOur results suggest a benefit of N-acetylglutamate administration outside the emergency setting. If this observation is confirmed, future studies should aim to optimize the dosage and explore effects of the dosage requirements on other drugs and on protein tolerance.
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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.