ArticleJournal of inherited metabolic disease2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Article in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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
4 citing papers in PubMed.
- Recent advances in the bioanalysis of acylcarnitines: Methodologies, challenges, and clinical perspectives.Pharmaceutical science advances · 2026Review
- Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way.International journal of neonatal screening · 2026Article
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.Journal of inherited metabolic disease · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
A critical concern of newborn screening (NBS) for very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is the difficulty of predicting clinical outcomes. To address this, we investigated neonatal C18:2-carnitine concentrations as a possible predictor of VLCADD phenotype. To investigate the impact of sex, gestational age (GA) at birth, sampling day and birth weight on C18:2-carnitine, we analyzed NBS-dried blood spots (DBS) from Dutch newborns born between 2018 and 2020 (n = 209.785). After normalization for resulting confounders, C18:2-carnitine concentrations were investigated in NBS-DBS (n = 15) and neonatal plasma (n = 35) of Dutch VLCADD-patients, and in German NBS-DBS (n = 6) and correlated with clinical severity and diagnostic assays. Results showed that C18:2-carnitine concentrations were affected by GA, sampling day, birth weight and, to a lesser extent, by sex. High C18:2-carnitine, normalized for GA, sampling day and birth weight, reliably identified all VLCADD-patients with (expected) severe phenotypes. The differentiating C18:2-carnitine was identified as linoleylcarnitine. In conclusion, this study shows that neonatal C18:2-carnitine concentrations can serve to predict disease severity directly after positive NBS for VLCADD. Patients with high C18:2-carnitine concentrations can be considered "severe" and require strict dietary treatment and close monitoring. Patients with low C18:2-carnitine concentrations can be identified as "mild" and only need preventive dietary measures.
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.