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

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• 作者：Robin R. McGoey ; Michael Marble
• 刊名：The Journal of Pediatrics
• 出版年：2011
• 出版时间：June 2011
• 年：2011
• 卷：158
• 期：6
• 页码：1031-1032
• 全文大小：90 K

文摘

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.