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

Walter C. Hubbard, Ann B. Moser, Silvia Tortorelli, Anita Liu, David Jones, Hugo Moser

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)185-187
Number of pages3
JournalMolecular genetics and metabolism
Volume89
Issue number1-2
DOIs
StatePublished - Sep 2006

Keywords

  • Adrenoleukodystrophy
  • Electrospray ionization (ESI)
  • Liquid chromatography-tandem mass spectrometry
  • Lysophosphatidyl choline
  • Multiple reaction monitoring (MRM)
  • Newborn screening
  • Quantitation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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