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

Christiane Theda; Katy Gibbons; Todd E Defor; Pamela K Donohue; W Christopher Golden; Antonie D Kline; Fizza Gulamali-Majid; Susan R Panny; Walter C Hubbard; Richard O Jones; Anita K Liu; Ann B Moser; Gerald V Raymond

doi:10.1016/j.ymgme.2013.10.019

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

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

Authors

Affiliations

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adrenoleukodystrophy / diagnosis*
Adrenoleukodystrophy / metabolism
Chromatography, Liquid
Female
Humans
Infant, Newborn
Lysophosphatidylcholines / metabolism*
Male
Neonatal Screening / methods*
Prospective Studies
Tandem Mass Spectrometry

Substances

Lysophosphatidylcholines

Abstract

Publication types

MeSH terms

Substances

Grants and funding