X连锁肾上腺脑白质营养不良的新生儿筛查：进一步证明高通量筛查是可行的。
Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
作者信息
Theda Christiane, Gibbons Katy, Defor Todd E, Donohue Pamela K, Golden W Christopher, Kline Antonie D, Gulamali-Majid Fizza, Panny Susan R, Hubbard Walter C, Jones Richard O, Liu Anita K, Moser Ann B, Raymond Gerald V
机构信息
Royal Women's Hospital, Neonatal Services, 20 Flemington Road, Parkville VIC 3052, Australia; The University of Melbourne and the Murdoch Childrens Research Institute, Melbourne, Australia; Frederick Memorial Hospital, 400 W 7th Street, Frederick, MD 21701, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA.
Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
出版信息
Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019. Epub 2013 Nov 9.
Abstract
X-linked adrenoleukodystrophy (ALD) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages. Plasma very long chain fatty acids are elevated in ALD; even in asymptomatic patients. We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C26:0 lysophosphatidylcholine reliably identifies affected males. We prospectively applied this method to 4689 newborn blood spot samples; no false positives were observed. We show that high throughput neonatal screening for ALD is methodologically feasible.
摘要
X连锁肾上腺脑白质营养不良（ALD）的特征是肾上腺功能不全和神经系统受累，发病年龄各异。ALD患者血浆极长链脂肪酸升高，即使是无症状患者也是如此。我们之前证明，液相色谱串联质谱法测量C26:0溶血磷脂酰胆碱能够可靠地识别患病男性。我们前瞻性地将该方法应用于4689份新生儿血斑样本，未观察到假阳性结果。我们表明，对ALD进行高通量新生儿筛查在方法上是可行的。
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