ArticleOrphanet journal of rare diseases2016
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.Journal of inherited metabolic disease · 2018Trial
- Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations.Orphanet journal of rare diseases · 2026Review
- Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.JIMD reports · 2026Article
- [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
- Characterization of a novel conditional knockout mouse model to assess efficacy of mRNA therapy in the context of severe OTC deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.npj metabolic health and disease · 2025Article
- Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.Journal of inherited metabolic disease · 2024Review
- Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises.Pediatric neurology · 2024Observational
- Newborn ornithine carbamyltransferase deficiency caused by newTranslational pediatrics · 2023Article
- [Expert consensus on the diagnosis and treatment of neonatal hyperammonemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Multisite Retrospective Review of Outcomes in Renal Replacement Therapy for Neonates with Inborn Errors of Metabolism.The Journal of pediatrics · 2022Article
- The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study.Journal of patient-reported outcomes · 2021Article
- Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.International journal of neonatal screening · 2020Review
- A retrospective review of outcomes in the treatment of hyperammonemia with renal replacement therapy due to inborn errors of metabolism.Pediatric nephrology (Berlin, Germany) · 2020Article
- Therapeutic effect ofMolecular genetics and metabolism reports · 2020Article
- Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report.Experimental and therapeutic medicine · 2020Article
- Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.Journal of clinical laboratory analysis · 2020Article
- Article
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Authors and funding
13 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUrea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and their survival and outcome prognoses are often limited. To understand better the current situation of neonatal onset in UCDs, we have performed a multicentre, retrospective, non-interventional case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS). METHODS AND
resultsData of 63 patients were collected (27 patients with ASS deficiency, 23 patients with OTC deficiency, and 12 patients with CPS1 deficiency, one patient definite diagnosis not documented). The majority of patients (43/63, 68 %) had an initial ammonia concentration exceeding 500 μmol/L (normal < 100), of which most (26/43, 60.5 %) were also encephalopathic and were treated with hemodialysis. In patients surviving the initial crisis, recurrence of hyperammonemic events within the first 1.5 years of life occurred frequently (mean 3.6 events, range 0-20). Of all patients, 16 (25.4 %) died during or immediately after the neonatal period.
conclusionWe observed in this cohort of neonatal onset UCD patients a high rate of initial life-threatening hyperammonemia and a high risk of recurrence of severe hyperammonemic crises. These corresponded to a high mortality rate during the entire study period (30.2 %) despite the fact that patients were treated in leading European metabolic centers. This underlines the need to critically re-evaluate the current treatment strategies in these patients.
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