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Article

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

PloS one - 30 Jul 2009

ter Veld Frank, Mueller Martina, Kramer Simone, Haussmann Ulrike, Herebian Diran, Mayatepek Ertan, Laryea Maurice D, Primassin Sonja, Spiekerkoetter Ute

Abstract excerpt

BACKGROUND: Newborn screening for medium- and very long-chain acyl-CoA dehydrogenase (MCAD and VLCAD, respectively) deficiency, using acylcarnitine profiling with tandem mass spectrometry, has increased the number of patients with fatty acid oxidation disorders due to the identification of additional milder, and so far silent, phenotypes. However, especially for VLCADD, the acylcarnitine profile can not...

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Share to Acyl-CoA Dehydrogenase
Share to Acyl-CoA Dehydrogenase, Long-Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, High Pressure Liquid

Share to Genetic Carrier Screening

Share to Genotype

Share to Infant, Newborn

Share to Lipid Metabolism, Inborn Errors

Share to Tandem Mass Spectrometry

Source

Open in PubMed Open full text

Identifiers

PMID: 19649258
DOI: 10.1371/journal.pone.0006449
PMCID: PMC2715108

Genes

ACADVL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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