母亲患有未确诊的中链酰基辅酶A脱氢酶缺乏症的健康婴儿的异常新生儿筛查
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
作者信息
Aksglaede Lise, Christensen Mette, Olesen Jess H, Duno Morten, Olsen Rikke K J, Andresen Brage S, Hougaard David M, Lund Allan M
机构信息
Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark,
出版信息
JIMD Rep. 2015;23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13.
Abstract
A neonate with low blood free carnitine level on newborn tandem mass spectrometry screening was evaluated for possible carnitine transporter defect (CTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were normal on confirmatory tests. Organic acids in urine were normal. In addition, none of the frequent Faroese SLC22A5 mutations (p.N32S, c.825-52G>A) which are common in the Danish population were identified. Evaluation of the mother showed low-normal free carnitine, but highly elevated medium-chain acylcarnitines (C6, C8, and C10:1) consistent with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The diagnosis was confirmed by the finding of homozygous presence of the c.985A>G mutation in ACADM.
摘要
一名在新生儿串联质谱筛查中血游离肉碱水平较低的新生儿接受了肉碱转运体缺陷（CTD）的评估。确证试验显示游离肉碱的血浆浓度略有降低，酰基肉碱（包括C6、C8和C10:1）的浓度正常。尿中的有机酸正常。此外，未发现丹麦人群中常见的法罗群岛SLC22A5常见突变（p.N32S，c.825-52G>A）。对母亲的评估显示游离肉碱处于低正常水平，但中链酰基肉碱（C6、C8和C10:1）高度升高，符合中链酰基辅酶A脱氢酶缺乏症（MCADD）。通过在ACADM中发现纯合的c.985A>G突变确诊。
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