ArticleOrphanet journal of rare diseases2013
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Benefits and harms of antenatal and newborn screening programmes in health economic assessments: the VALENTIA systematic review and qualitative investigation.Health technology assessment (Winchester, England) · 2024Pooled it
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China.Quantitative imaging in medicine and surgery · 2026Article
- Article
- Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?International journal of neonatal screening · 2024Review
- [Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.BMC health services research · 2022Article
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee.Orphanet journal of rare diseases · 2021Article
- Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.Orphanet journal of rare diseases · 2021Article
- Glutaric Aciduria Type 1: A Case Report and Review of Literature.Journal of pediatric intensive care · 2021Article
- Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.Metabolic brain disease · 2021Article
- The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review.International journal of neonatal screening · 2020Article
- The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism.International journal of neonatal screening · 2020Article
- A holistic approach to the patients/ Families with inborn errors of metabolism.Journal of mother and child · 2020Review
- Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.Italian journal of pediatrics · 2018Article
- Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.Experimental and therapeutic medicine · 2017Article
- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.JIMD reports · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.European journal of pediatrics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel.
methodsWe assessed the cost-effectiveness of newborn screening for GA-I against the alternative of not including GA-I in MS/MS screening. A Markov model was developed simulating the clinical course of screened and unscreened newborns within different time horizons of 20 and 70 years. Monte Carlo simulation based probabilistic sensitivity analysis was used to determine the probability of GA-I screening representing a cost-effective therapeutic strategy.
resultsWithin a 20 year time horizon, GA-I screening averts approximately 3.7 DALYs (95% CI 2.9 - 4.5) and about one life year is gained (95% CI 0.7 - 1.4) per 100,000 neonates screened initially . Moreover, the screening programme saves a total of around 30,682 Euro (95% CI 14,343 to 49,176 Euro) per 100,000 screened neonates over a 20 year time horizon.
conclusionWithin the limitations of the present study, extending pre-existing MS/MS newborn screening programmes by GA-I represents a highly cost-effective diagnostic strategy when assessed under conditions comparable to the German health care system.
Indexed as
Identifiers
What OpenQuestion holds
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.