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

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/24268529
Author: 
Raymond GV
Author List: 
Theda C
Gibbons K
Defor TE
Donohue PK
Golden WC
Kline AD
Gulamali-Majid F
Panny SR
Hubbard WC
Jones RO
Liu AK
Moser AB
Raymond GV
Journal: 
Mol Genet Metab
PubMed ID: 
24268529
Pagination: 
55-7
Volume: 
111
Issue: 
1
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.
Published Date: 
January, 2014

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