正常新生儿母亲无症状的极长链酰基辅酶 A 脱氢酶缺乏症的阳性新生儿筛查。
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
机构信息
Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
出版信息
J Pediatr. 2011 Jun;158(6):1031-2. doi: 10.1016/j.jpeds.2011.01.063. Epub 2011 Mar 22.
PMID:21429517
Abstract
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.
摘要
新生儿筛查发现十四碳烯酰肉碱（C14:1）升高，怀疑可能为极长链酰基辅酶 A 脱氢酶缺乏症（VLCADD），并发现为携带者。但其无症状的母亲随后被诊断为 VLCADD。本病例记录了母源性 VLCADD 导致后代新生儿筛查阳性的情况。
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