Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring. (J Pediatr 2011;158:1031-2)