title: Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.
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.
authors.affiliation: 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.
authors.forename: Christiane
authors.initials: C
authors.lastname: Theda
authors.affiliation: Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
authors.forename: Katy
authors.initials: K
authors.lastname: Gibbons
authors.affiliation: Department of Biostatistics and Informatics Core, University of Minnesota Medical School, 420 Delaware Street, SE, Minneapolis, MN 55455, USA.
authors.forename: Todd E
authors.initials: TE
authors.lastname: Defor
authors.affiliation: 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.
authors.forename: Pamela K
authors.initials: PK
authors.lastname: Donohue
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Johns Hopkins Children's Center, 1800 Orleans Street, Baltimore, MD 21287, USA.
authors.forename: W Christopher
authors.initials: WC
authors.lastname: Golden
authors.affiliation: Harvey Institute for Human Genetics, Greater Baltimore Medical Center, 6701 N Charles Street, Baltimore, MD 21204, USA.
authors.forename: Antonie D
authors.initials: AD
authors.lastname: Kline
authors.affiliation: Maryland Department of Health and Mental Hygiene, 201 W Preston Street, Room 1A6, Baltimore, MD 21201, USA.
authors.forename: Fizza
authors.initials: F
authors.lastname: Gulamali-Majid
authors.affiliation: Maryland Department of Health and Mental Hygiene, 201 W Preston Street, Room 1A6, Baltimore, MD 21201, USA.
authors.forename: Susan R
authors.initials: SR
authors.lastname: Panny
authors.affiliation: Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, Osler 527, 600 N Wolfe Street, Baltimore, MD 21287, USA.
authors.forename: Walter C
authors.initials: WC
authors.lastname: Hubbard
authors.affiliation: Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
authors.forename: Richard O
authors.initials: RO
authors.lastname: Jones
authors.affiliation: Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
authors.forename: Anita K
authors.initials: AK
authors.lastname: Liu
authors.affiliation: Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA.
authors.forename: Ann B
authors.initials: AB
authors.lastname: Moser
authors.affiliation: 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.
authors.forename: Gerald V
authors.initials: GV
authors.lastname: Raymond
mesh_terms: D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000378:metabolism; D002853:Chromatography, Liquid; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008244:Lysophosphatidylcholines / Q000378:metabolism*; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D011446:Prospective Studies; D053719:Tandem Mass Spectrometry
chemical_list: D008244:Lysophosphatidylcholines
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