ArticleJournal of inherited metabolic disease2016
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.Journal of inherited metabolic disease · 2021Trial
- Efficacy and safety of pegzilarginase in patients below 2 years of age with arginase 1 deficiency: a phase 3, open-label, multi-centre study.EClinicalMedicine · 2026Article
- Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.Journal of inherited metabolic disease · 2026Article
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- Arginase 1 deficiency: a treatable form of spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre.JIMD reports · 2024Article
- Plasma arginine levels in arginase deficiency in the "real world".Molecular genetics and metabolism reports · 2024Article
- Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.EClinicalMedicine · 2024Article
- ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.Genetics in medicine open · 2024Article
- The role and control of arginine levels in arginase 1 deficiency.Journal of inherited metabolic disease · 2023Review
- Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2023Review
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.Cold Spring Harbor molecular case studies · 2022Article
- Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reports.JIMD reports · 2022Article
- Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.JIMD reports · 2022Article
- Creatine metabolism in patients with urea cycle disorders.Molecular genetics and metabolism reports · 2021Article
- Current status of surviving patients with arginase 1 deficiency in Japan.Molecular genetics and metabolism reports · 2021Article
- Urinary metabolic signatures reflect cardiovascular risk in the young, middle-aged, and elderly populations.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Toxic Dimethylarginines: Asymmetric Dimethylarginine (ADMA) and Symmetric Dimethylarginine (SDMA).Toxins · 2017Review
- The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.Child neurology openArticle
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundArginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.
methodsClinical data were retrieved retrospectively from physicians using a questionnaire survey. Plasma aminoacids, guanidinoacetate (GAA), parameters indicating oxidative stress and nitric oxide (NO) synthesis as well as asymmetric dimethylarginine (ADMA) were measured at a single study site.
resultsNineteen individuals with ARG1 deficiency and 19 matched controls were included in the study. In patients, paraparesis, cognitive impairment, and seizures were significantly associated suggesting a shared underlying pathophysiology. In patients plasma GAA exceeded normal ranges and plasma ADMA was significantly elevated. Compared to controls, nitrate was significantly higher, and the nitrite:nitrate ratio significantly lower in subjects with ARG1 deficiency suggesting an advantage for NO synthesis by inducible NO synthase (iNOS) over endothelial NOS (eNOS). Logistic regression revealed no significant impact of any of the biochemical parameters (including arginine, nitrates, ADMA, GAA, oxidative stress) or protein restriction on long-term outcome.
conclusionThree main hypotheses which must be evaluated in a hypothesis driven confirmatory study are delineated from this study: 1) clinical manifestations in ARG1 deficiency are not correlated with arginine, protein intake, ADMA, nitrates or oxidative stress. 2) GAA is elevated and may be a marker or an active part of the pathophysiology of ARG1 deficiency. 3) Perturbations of NO metabolism merit future attention in ARG1 deficiency.
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