In conclusion, a detailed analysis of the clinical conditions and gene variants of four cases of VLCADD was conducted in this study, four novel pathogenic variants of the ACADVL gene were found through genetic testing, the ACADVL gene mutation spectrum was enriched, and the correlation between the genotype and phenotype of four cases was analyzed. Here, ACADVL is linked to very long chain acyl-CoA dehydrogenase deficiency.