domingo, 1 de diciembre de 2013

Newborn screening for X-linked adrenoleukody... [Mol Genet Metab. 2013] - PubMed - NCBI

2013 Nov 9. pii: S1096-7192(13)00367-3. doi: 10.1016/j.ymgme.2013.10.019. [Epub ahead of print]

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

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.

Source

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. Electronic address: Christiane.Theda@thewomens.org.au.

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.
Copyright © 2013 Elsevier Inc. All rights reserved.

KEYWORDS:

ALD, AMN, Adrenal insufficiency, Adrenoleukodystrophy, Adrenomyeloneuropathy, LC MS/MS, Lyso-PC, MRI, Magnetic resonance imaging, NDBS, Newborn screening, Peroxisomal disorders, Tandem mass spectrometry, adrenoleukodystrophy, adrenomyeloneuropathy, liquid chromatography tandem mass spectrometry, lysophosphatidylcholine, newborn dried blood spots