期刊
MOLECULAR GENETICS AND METABOLISM
卷 79, 期 3, 页码 189-196出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/S1096-7192(03)00098-2
关键词
X-linked adrenoleukodystrophy; very long-chain fatty acids; VLCFA; ESI-MS; diagnosis; peroxisome
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 4 h. This includes 2 h of hydrolysis and 4 min 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 monounsaturated 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. (C) 2003 Elsevier Science (USA). All rights reserved.
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