Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening
- 作者：Christopher A. Haynes ; cph7@cdc.gov ; Ví ; ctor R. De Jesú ; s foa5@cdc.gov
- 关键词：DBS ; Dried-blood spot ; C26 ; 0-LPC ; 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine ; X-ALD ; X-linked adrenoleukodystrophy ; PBD ; peroxisomal biogenesis disorder ; VLCFA ; very long-chain fatty acid ; LPC ; lyso-phosphatidylcholine ; HPLC-ESI-MS/MS ; high-perf
- 刊名：Clinica Chimica Acta
- 出版年：2012
- 期刊代码：54_00098981
- 类别：med
- 出版时间：16 August, 2012
- 卷：413
- 期：15-16
- 页码：1217-1221
- 文件大小：762 K
摘要
Background
X-linked adrenoleukodystrophy (X-ALD) is the most common human peroxisomal disorder, and is caused by mutations in the peroxisomal transmembrane ALD protein (ALDP, ABCD1). The biochemical defect associated with X-ALD is an accumulation of very long-chain fatty acids (VLCFA, e.g. C24:0 and C26:0), which has been shown to result in the accumulation of C26:0-lysophosphatidylcholine (C26:0-LPC).Methods
We describe the analysis of C26:0-LPC in dried-blood spots (DBS) using a rapid (30 min) and simple extraction procedure, isocratic HPLC resolution of LPC, and structure-specific analysis via negative ion mode tandem mass spectrometry.
Results
In putative normal DBS specimens from newborns (N = 223) C26:0-LPC was 0.09 卤 0.03 渭mol/l whole blood, while in peroxisomal biogenesis disorder (including X-ALD) patients (N = 28) C26:0-LPC was 1.13 卤 0.67 渭mol/l whole blood. Both multiple reaction monitoring and a neutral loss scan (225.1 Da) analysis of DBS were used to analyze LPC.
Conclusions
Compared to a previous report of C26:0-LPC analysis in DBS, the method described here is simpler, faster, and more structure-specific for LPC with C26:0 acyl chains.