Format

Send to

Choose Destination
Clin Chim Acta. 2012 Aug 16;413(15-16):1217-21. doi: 10.1016/j.cca.2012.03.026. Epub 2012 Apr 4.

Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.

Author information

1
Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA. cph7@cdc.gov

Abstract

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±0.03 μmol/l whole blood, while in peroxisomal biogenesis disorder (including X-ALD) patients (N=28) C26:0-LPC was 1.13±0.67 μmol/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.

PMID:
22503909
DOI:
10.1016/j.cca.2012.03.026
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center