Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

Mol Genet Metab. 2003 Jul;79(3):189-96. doi: 10.1016/s1096-7192(03)00098-2.

Abstract

Elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues are the biochemical hallmark for patients with X-linked adrenoleukodystrophy (X-ALD). Current methods for the determination of VLCFA levels are laborious and time-consuming. We describe a rapid and easy method using electrospray ionization mass spectrometry (ESI-MS) with deuterated internal standards. VLCFA are hydrolyzed, extracted, and quantified in less than 4h. This includes 2h of hydrolysis and 4min of quantification. We validated the method by analyzing 60 plasma samples from controls and patients with X-ALD or Zellweger syndrome using both the ESI-MS protocol and an established method for VLCFA analysis using gas chromatography (GC). The C26:0 concentrations determined with ESI-MS in plasma and fibroblasts of X-ALD patients are in good agreement with those reported previously for GC and GC-MS. Besides saturated straight chain VLCFA, we also determined the concentrations of the mono-unsaturated VLCFA C24:1 and C26:1 and established that while C24:1 levels are not elevated, C26:1 levels are elevated in both plasma and fibroblasts from X-ALD patients.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adrenoleukodystrophy / blood
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics
  • Cell Line
  • Chromatography, Gas
  • Fatty Acids / analysis*
  • Fatty Acids / blood*
  • Female
  • Fibroblasts / chemistry*
  • Humans
  • Male
  • Reference Values
  • Spectrometry, Mass, Electrospray Ionization / methods*
  • Zellweger Syndrome / blood*
  • Zellweger Syndrome / diagnosis

Substances

  • Fatty Acids