Abstract
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 verification were performed via high-throughput sequencing combined with Sanger sequencing. The pathogenicity and functional impacts of novel variants were predicted using bioinformatics methods. RESULTS: Initial results obtained from tandem mass spectrometry blood screening were suggestive of VLCADD. Two compound heterozygous variants, c.753 T > G (p.S251R) and c.1276G > A (p.A426T), inherited from the father and mother, respectively, were detected in the ACADVL gene of this individual. The c.753 T > G variant is novel and unreported. CONCLUSION: These findings broaden the known mutational spectrum of the ACADVL gene in a Chinese population.