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Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

Background: Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disease associated with variants in the ACADVL gene. Methods: In December 2021, a neonate with VLCADD was identified via newborn screening in Xuzhou, China. Genetic testing and genetic family...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Wei Zhou, Huizhong Li, Li Yang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2025-03-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
VLCADD
ACADVL gene
Novel variant
Newborn screening
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S221442692400137X
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