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Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.原发性肉碱缺乏症患者的残余有机阳离子转运体2（OCTN2）转运活性、肉碱水平与症状相关。
Mol Genet Metab Rep. 2014 May 22;1:241-248. doi: 10.1016/j.ymgmr.2014.04.008. eCollection 2014.
2
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.原发性肉碱缺乏症以长QT综合征的非典型表现：一例报告。
JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6.
3
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.丹麦、法罗群岛和格陵兰岛 504049 例新生儿的生化筛查——扩大新生儿筛查常规方案的经验和发展。
Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21.
4
MCAD deficiency in Denmark.丹麦的 MCAD 缺乏症。
Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4.
5
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.英国新生儿中链酰基辅酶 A 脱氢酶缺乏症的筛查：基于 150 万例筛查婴儿的患病率、预测值和检测有效性。
J Med Screen. 2011;18(4):173-81. doi: 10.1258/jms.2011.011086. Epub 2011 Dec 13.
6
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.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。
J Pediatr. 2011 Jun;158(6):1031-2. doi: 10.1016/j.jpeds.2011.01.063. Epub 2011 Mar 22.
7
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.新生儿筛查发现的母体中链酰基辅酶 A 脱氢酶缺乏症。
Mol Genet Metab. 2011 May;103(1):92-5. doi: 10.1016/j.ymgme.2011.01.011. Epub 2011 Jan 27.
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.母体核黄素缺乏导致短暂性新生儿发作的戊二酸尿症 2 型，是由于核黄素转运蛋白基因 GPR172B 的微缺失引起的。
Hum Mutat. 2011 Jan;32(1):E1976-84. doi: 10.1002/humu.21399.
9
Low availability of carnitine precursors as a possible reason for the diminished plasma carnitine concentrations in pregnant women.肉碱前体的低可用性可能是孕妇血浆肉碱浓度降低的原因之一。
BMC Pregnancy Childbirth. 2010 Apr 25;10:17. doi: 10.1186/1471-2393-10-17.
10
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.通过新生儿筛查诊断患有肉碱摄取缺陷的新生儿和母亲。
Mol Genet Metab. 2010 May;100(1):46-50. doi: 10.1016/j.ymgme.2009.12.015. Epub 2009 Dec 28.

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.

DOI:10.1007/8904_2015_428
PMID:25763512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4484903/
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。