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Article

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Journal of inherited metabolic disease - 1 Mar 2026

Schwantje Marit, Maase Rose E, Dekkers Eugenie, Ferdinandusse Sacha, Vaz Frédéric M, Hörster Friederieke, Mütze Ulrike, Grünert Sarah C, Visser Gepke, Velden Monique G M De Sain-van der, Fuchs Sabine A

Abstract excerpt

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...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Congenital Bone Marrow Failure Syndromes

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Share to Lipid Metabolism, Inborn Errors

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Identifiers

PMID: 41702539
DOI: 10.1002/jimd.70143
PMCID: PMC12912846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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