ACADVL variants in Chinese patient

To report the clinical, genetic and functional findings of variants in ACADVL gene in Chinese VLCADD patient.The patient presented severe neonatal-onset clinical features. Analysis of ACADVL gene showed that in patient 1, there was a compound heterozygous mutation of one novel missense variant (p.Met352Thr) and one synonymous variant (p.Ser423=). We evaluate the variants in ACADVL gene structurally and functionally.