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Mol Genet Metab. 2014 Jan;111(1):55-7. doi: 10.1016/j.ymgme.2013.10.019. Epub 2013 Nov 9.

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

Author information

1
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.
2
Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
3
Department of Biostatistics and Informatics Core, University of Minnesota Medical School, 420 Delaware Street, SE, Minneapolis, MN 55455, USA.
4
Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA; Population, Family and Reproductive Health, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe Street, Baltimore, MD 21205, USA.
5
Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA.
6
Harvey Institute for Human Genetics, Greater Baltimore Medical Center, 6701 N Charles Street, Baltimore, MD 21204, USA.
7
Maryland Department of Health and Mental Hygiene, 201 W Preston Street, Room 1A6, Baltimore, MD 21201, USA.
8
Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, Osler 527, 600 N Wolfe Street, Baltimore, MD 21287, USA.
9
Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA; University of Minnesota, 12-150 Phillips Wangensteen Building, MMC-295, 516 Delaware Street, SE, Minneapolis, MN 55455, USA.

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.

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

PMID:
24268529
PMCID:
PMC3935823
DOI:
10.1016/j.ymgme.2013.10.019
[Indexed for MEDLINE]
Free PMC Article

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