ReviewJournal of molecular medicine (Berlin, Germany)2015
Arginase-1 deficiency.
Review in Journal of molecular medicine (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.Journal of inherited metabolic disease · 2021Trial
- Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.Journal of inherited metabolic disease · 2026Article
- Article
- Extracellular Vesicles Delivered a Functional ARG1 Enzyme and Restored Its Activity in a Mouse Model of ARG1-D Resulting in Improved Lifespan.International journal of molecular sciences · 2026Article
- Unraveling the role of polyamine metabolism in postoperative delirium: insights into biochemical mechanisms and biomarker potential.npj aging · 2026Article
- Targeting Arginase 1 but Not Arginase 2 Protects from Myocardial Ischemia-Reperfusion Injury via Nitric Oxide Signaling by Red Blood Cells in Type 2 Diabetes.Antioxidants (Basel, Switzerland) · 2026Article
- Article
- Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.Molecular genetics and metabolism reports · 2025Article
- Article
- Detrimental influence of Arginase-1 in infiltrating macrophages on poststroke functional recovery and inflammatory milieu.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Potential role of ARG1 c.57G > A variant in Argininemia.Genes & genomics · 2025Article
- Putative biomarkers of hepatic dysfunction in critically ill sepsis patients.Clinical and experimental medicine · 2025Article
- Therapeutic potential of natural arginase modulators: mechanisms, challenges, and future directions.Frontiers in pharmacology · 2025Review
- Article
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Wnt/β-catenin signaling regulates amino acid metabolism through the suppression of CEBPA and FOXA1 in liver cancer cells.Communications biology · 2024Article
- Monocyte (THP-1) Response to Silver Nanoparticles Synthesized withNanomaterials (Basel, Switzerland) · 2024Article
- ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.Genetics in medicine open · 2024Article
- Arginase deficiency masked by cerebral palsy and coagulopathy-Three varied presentations of Latin American origin.JIMD reports · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arginase-1 (ARG1) deficiency is a rare autosomal recessive disorder that affects the liver-based urea cycle, leading to impaired ureagenesis. This genetic disorder is caused by 40+ mutations found fairly uniformly spread throughout the ARG1 gene, resulting in partial or complete loss of enzyme function, which catalyzes the hydrolysis of arginine to ornithine and urea. ARG1-deficient patients exhibit hyperargininemia with spastic paraparesis, progressive neurological and intellectual impairment, persistent growth retardation, and infrequent episodes of hyperammonemia, a clinical pattern that differs strikingly from other urea cycle disorders. This review briefly highlights the current understanding of the etiology and pathophysiology of ARG1 deficiency derived from clinical case reports and therapeutic strategies stretching over several decades and reports on several exciting new developments regarding the pathophysiology of the disorder using ARG1 global and inducible knockout mouse models. Gene transfer studies in these mice are revealing potential therapeutic options that can be exploited in the future. However, caution is advised in extrapolating results since the lethal disease phenotype in mice is much more severe than in humans indicating that the mouse models may not precisely recapitulate human disease etiology. Finally, some of the functions and implications of ARG1 in non-urea cycle activities are considered. Lingering questions and future areas to be addressed relating to the clinical manifestations of ARG1 deficiency in liver and brain are also presented. Hopefully, this review will spark invigorated research efforts that lead to treatments with better clinical outcomes.
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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.