通过串联质谱分析格思里卡片对婴儿猝死综合征进行脂肪酸氧化障碍的尸检筛查。
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
作者信息
Wilcox Rebecca L, Nelson Cliff C, Stenzel Peter, Steiner Robert D
机构信息
Department of Pathology, Oregon Health Sciences University, Portland 97201, USA.
出版信息
J Pediatr. 2002 Dec;141(6):833-6. doi: 10.1067/mpd.2002.130259.
A protocol was developed for the detection of fatty acid oxidation disorders (FOD) in cases of sudden unexpected death in infancy (SUDI). Tandem mass spectrometry blood acylcarnitine analysis of Guthrie card blood spots was performed. In the first 5 years, 1.2% of Oregon's 247 SUDI cases were identified with FOD, 2 with medium-chain acyl-CoA dehydrogenase deficiency, and one with very long-chain acyl-CoA dehydrogenase deficiency.
针对婴儿猝死综合征（SUDI）病例，制定了一种检测脂肪酸氧化障碍（FOD）的方案。对Guthrie卡片血斑进行串联质谱血酰基肉碱分析。在最初的5年里，俄勒冈州247例SUDI病例中有1.2%被确诊为FOD，其中2例为中链酰基辅酶A脱氢酶缺乏症，1例为极长链酰基辅酶A脱氢酶缺乏症。
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