OP003: Characterization of variants of uncertain significance in very long-chain acyl-CoA dehyrogenase identified through newborn screening

Abstract

Newborn screening identifies inborn errors of metabolism, which are often confirmed by DNA sequencing. However, sequencing often identifies variants of uncertain significance (VUS), leading to difficulty in diagnosis and treatment plans. Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive disease resulting from biallelic variants in ACADVL. Patients with VLCADD cannot utilize energy from long fatty acid chains and present with a variety of symptoms, including hypoglycemia and recurrent rhabdomyolysis.