Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings

Mol Genet Metab. Sep-Oct 2006;89(1-2):185-7. doi: 10.1016/j.ymgme.2006.05.001. Epub 2006 Jul 7.


Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess of lysophosphatidyl choline containing hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls. There was no overlap between normal subjects versus affected subjects.

Publication types

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

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Child, Preschool
  • Chromatography, Liquid / methods*
  • Fatty Acids / blood*
  • Genetic Testing / methods*
  • Humans
  • Infant
  • Lysophosphatidylcholines / blood*
  • Male
  • Mass Spectrometry / methods
  • Peroxisomal Disorders / diagnosis*


  • Fatty Acids
  • Lysophosphatidylcholines
  • hexacosanoic acid