<i>ACADVL</i> Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

ABSTRACT: Background: Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is caused by biallelic pathogenic variants in ACADVL (acyl-CoA dehydrogenase very-long-chain), leading to impaired fatty acid oxidation and the accumulation of long-chain acylcarnitine. We report a single case of a two-year-old girl, whose neonatal metabolic screening revealed an acylcarnitine profile suggestive of VLCADD, with residual enzymatic activity of 19.8%. Methods: We performed ACADVL whole-gene sequencing. We then carried out an in silico analysis of the potential effects of the variants with dedicated tools, assessing splicing, RNA structure, RNA binding factors, and protein structure. We also conducted gene expression analysis. Results: Genetic testing identified her as com

SUBMITTER: Baldo F 

PROVIDER: S-EPMC12111055 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature