串联质谱法用于新生儿极长链酰基辅酶A脱氢酶缺乏症筛查的陷阱
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
作者信息
Schymik Ina, Liebig Michaela, Mueller Martina, Wendel Udo, Mayatepek Ertan, Strauss Arnold W, Wanders Ronald J A, Spiekerkoetter Ute
机构信息
Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany.
出版信息
J Pediatr. 2006 Jul;149(1):128-30. doi: 10.1016/j.jpeds.2006.02.037.
Neonatal screening programs for very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) have recently been implemented. We report 2 newborns with elevated C14:1-carnitine levels on day 3 of life and normal levels on days 5 to 7. Enzyme and molecular analyses confirmed VLCADD in the first patient and heterozygosity in the second patient. We conclude that the diagnosis of VLCADD can be missed by acylcarnitine analysis during anabolic conditions. An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels.
最近已经实施了针对极长链酰基辅酶A脱氢酶缺乏症（VLCADD）的新生儿筛查项目。我们报告了2例新生儿，其出生第3天时C14:1-肉碱水平升高，而第5至7天时水平正常。酶学和分子分析证实首例患者为VLCADD，第二例患者为杂合子。我们得出结论，在合成代谢状态下，通过酰基肉碱分析可能会漏诊VLCADD。杂合个体中也可能出现C14:1-肉碱水平升高。即使重复样本显示酰基肉碱水平正常，新生儿筛查中C14:1-肉碱水平升高也需要进一步的诊断检查。
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