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Direct prediction of VLCADD severity using newborn screening analyte data

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 imp...

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Main Authors: Schwantje, Marit (Author) , Maase, Rose E. (Author) , Dekkers, Eugenie (Author) , Ferdinandusse, Sacha (Author) , Vaz, Frédéric M. (Author) , Hörster, Friederike (Author) , Mütze, Ulrike (Author) , Grünert, Sarah C. (Author) , Visser, Gepke (Author) , Velden, Monique G. M. De Sain-van der (Author) , Fuchs, Sabine A. (Author)
Format: Article (Journal)
Language:English
Published: March 2026
In: Journal of inherited metabolic disease
Year: 2026, Volume: 49, Issue: 2, Pages: 1-11
ISSN:1573-2665
DOI:10.1002/jimd.70143
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.70143
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.70143
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Author Notes:Marit Schwantje, Rose E. Maase, Eugenie Dekkers, Sacha Ferdinandusse, Frédéric M. Vaz, Friederieke Hörster, Ulrike Mütze, Sarah C. Grünert, Gepke Visser, Monique G.M. De Sain-van der Velden, Sabine A. Fuchs
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Summary: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.
Item Description:Zuerst veröffentlicht: 17. Februar 2026
Gesehen am 10.04.2026
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.70143

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