Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy

Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD). Our aim was to develop a flow injection ionization-tandem mass spectrometry (FIA-MS/MS) method for estimating a panel of LPCs (C20:0-C26:0-LPCs) in dried blood spots (DBS) and to dete...

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Bibliographic Details
Published in:Clinica chimica acta 2019-08, Vol.495, p.167-173
Main Authors: Natarajan, Archana, Christopher, Rita, Netravathi, Manjunath, Bhat, Maya D., Chandra, Sadanandavalli Retnaswami
Format: Article
Language:English
Subjects:
Dried blood spots
Flow injection ionization-tandem mass spectrometry
Lysophosphatidylcholines
Screening
X-linked adrenoleukodystrophy
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Summary:Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD). Our aim was to develop a flow injection ionization-tandem mass spectrometry (FIA-MS/MS) method for estimating a panel of LPCs (C20:0-C26:0-LPCs) in dried blood spots (DBS) and to determine the sensitivity and specificity of this method for high-throughput screening for X-ALD. LPCs (C20:0-C26:0) were extracted from 3.2 mm DBS in a 96-well plate, spiked with isotopically-labelled internal standard (C26:0-d4-LPC) and measured by FIA-MS/MS in electrospray ionization (ESI)-positive, multiple reaction monitoring (MRM) mode using a triple quadrupole, tandem mass spectrometer. The sensitivity and specificity of the FIA-MS/MS method for screening of X-ALD was determined. The FIA-MS/MS method was compared with the LC-MS/MS method for estimating LPC concentrations. Elevated C26:0 and C24:0-LPCs were 100% sensitive for identification of X-ALD. However, specificity was only 78.33% for C26:0 and 98.33% for C24:0-LPCs. Sensitivity for C22:0 and C20:0 LPCs were 89.29%, 78.33% and specificity, 67.86% and 73.33%, respectively. The FIA-MS/MS method showed good concordance with the LC-MS/MS method. The FIA-MS/MS method for estimating C26:0 and C24:0-LPCs in DBS is suitable for first-tier screening of newborns for X-ALD. Second-tier confirmatory testing is required to screen positive cases. •Lysophosphatidylcholines (LPCs) were measured from blood spots by FIA-LC-MS/MS method.•Elevated C26:0 and C24:0-LPCs were 100% sensitive for identification of X-ALD.•FIA-MS/MS showed good concordance with LC-MS/MS method.•FIA-MS/MS method can be used for high-throughput, first tier screening for X-ALD.
ISSN:0009-8981
1873-3492
DOI:10.1016/j.cca.2019.04.059