Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
Submitted by Mark McIntosh, on Fri, 2016-09-30 15:53
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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