Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

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• 作者：Christiane Theda ; Katy Gibbons ; Todd E. DeFor ; Pamela K. Donohue ; W. Christopher Golden ; Antonie D. Kline ; Fizza Gulamali-Majid ; Susan R. Panny ; Walter C. Hubbard ; Richard O. Jones ; Anita K. Liu ; Ann B. Moser ; Gerald V. Raymond
• 关键词：AMN ; adrenomyeloneuropathy ; LC MS/MS ; liquid chromatography tandem mass spectrometry ; Lyso-PC ; lysophosphatidylcholine ; MRI ; Magnetic resonance imaging ; NDBS ; newborn dried blood spots ; ALD ; adrenoleukodystrophy
• 刊名：Molecular Genetics and Metabolism
• 出版年：January, 2014
• 年：2014
• 卷：111
• 期：1
• 页码：55-57
• 全文大小：169 K

文摘

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.