ArticleJournal of inherited metabolic disease2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
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. An erratum has been issued. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 75 citations in OpenAlex.
- Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.International journal of neonatal screening · 2026Article
- Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.Scientific reports · 2026Article
- Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).Children (Basel, Switzerland) · 2025Article
- Article
- Long-term neurodevelopmental outcomes following liver transplantation for metabolic disease-a single centre experience.Journal of inherited metabolic disease · 2025Article
- Development of a Polymersome Blood Ammonia Assay Coupled with a Portable Near-Infrared Fluorometer.ACS bio & med chem Au · 2024Article
- Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.Molecular genetics and metabolism · 2024Article
- [Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.Frontiers in nutrition · 2024Article
- Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.Molecular genetics and metabolism reports · 2023Article
- Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.JCI insight · 2023Article
- S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool?Journal of clinical medicine · 2023Article
- Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.Annals of clinical and translational neurology · 2022Article
- Unmet Needs of Parents of Children with Urea Cycle Disorders.Children (Basel, Switzerland) · 2022Article
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation.Cureus · 2021Article
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.Molecular genetics and metabolism · 2020Article
- Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.International journal of neonatal screening · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 15 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with urea cycle disorders (UCDs) have an increased risk of neurological disease manifestation.
aimsDetermining the effect of diagnostic and therapeutic interventions on the neurological outcome.
methodsEvaluation of baseline, regular follow-up and emergency visits of 456 UCD patients prospectively followed between 2011 and 2015 by the E-IMD patient registry.
resultsAbout two-thirds of UCD patients remained asymptomatic until age 12 days [i.e. the median age at diagnosis of patients identified by newborn screening (NBS)] suggesting a potential benefit of NBS. In fact, NBS lowered the age at diagnosis in patients with late onset of symptoms (>28 days), and a trend towards improved long-term neurological outcome was found for patients with argininosuccinate synthetase and lyase deficiency as well as argininemia identified by NBS. Three to 17 different drug combinations were used for maintenance therapy, but superiority of any single drug or specific drug combination above other combinations was not demonstrated. Importantly, non-interventional variables of disease severity, such as age at disease onset and peak ammonium level of the initial hyperammonemic crisis (cut-off level: 500 μmol/L) best predicted the neurological outcome.
conclusionsPromising results of NBS for late onset UCD patients are reported and should be re-evaluated in a larger and more advanced age group. However, non-interventional variables affect the neurological outcome of UCD patients. Available evidence-based guideline recommendations are currently heterogeneously implemented into practice, leading to a high variability of drug combinations that hamper our understanding of optimised long-term and emergency treatment.
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