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.


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


  • Lysophosphatidylcholines