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Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Clinical genetics - 1 Apr 2026

Hidalgo Mayoral Irene, Herranz Cecilia Amanda, Rodríguez-Jiménez Carmen, Carazo Álvarez Ana, Bergua Martínez Ana, Andrade Guerrero José David, Moráis López Ana, Rodríguez-Nóvoa Sonia

Abstract excerpt

In this study, we aimed to assess clinical, laboratory and molecular features of newborns with clinical suspicion for systemic primary carnitine deficiency (CUD), medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). The implementation of newborn screening programs for fatty acid β-oxidation disorders (FAODs) has changed the natural course of these...

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Identifiers

PMID: 41022664
DOI: 10.1111/cge.70083

Genes

ACADM
ACADVL
SLC22A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.PMID 41022664Read ↗

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