Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.

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Title: Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.
Authors: Natarajan, Archana1, Christopher, Rita1, Netravathi, Manjunath2, Chandra, Sadanandavalli Retnaswami2, Bhat, Maya3
Source: Clinica Chimica Acta. Oct2018, Vol. 485, p305-310. 6p.
Subjects: Liquid chromatography-mass spectrometry, Adrenoleukodystrophy, Bloodstains, Electrospray ionization mass spectrometry, Gas chromatography/Mass spectrometry (GC-MS)
Abstract: Background Elevated C26:0-lysophosphatidylcholine (LPC) is used as a biomarker to screen newborns for X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder. Our aim was to develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for estimating a panel of LPCs (C20:0, C22:0, C24:0 and C26:0) from dried blood spots (DBS) and to evaluate its sensitivity and specificity for identification of X-ALD in clinically suspected cases. Methods LPCs (C20:0 - C26:0) were extracted from 3.2 mm DBS, spiked with an isotopically labelled internal standard (C26:0-d4-LPC) in a 96-well plate, and measured by LC-MS/MS in electrospray ionization positive, multiple reaction monitoring mode. The sensitivity and specificity of the method was evaluated in 21 patients diagnosed with X-ALD and 375 healthy controls. Results Elevated C26:0 and C24:0-LPCs were 100% sensitive and specific for identification of X-ALD. The sensitivity and specificity of elevated C26:0/C20:0, C26/C22:0, C24:0/C20:0 and C24/C22:0-LPCs were > 80% and 70%, respectively. Conclusion The LC-MS/MS method for estimating LPCs in DBS can be used to identify X-ALD in clinically suspected patients. Further large-scale studies to determine the pre-analytical variables and to define age- and gender-specific reference ranges in various ethnic groups are warranted before introducing this method for high-risk screening in India. [ABSTRACT FROM AUTHOR]
Copyright of Clinica Chimica Acta is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.
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  Data: <searchLink fieldCode="JN" term="%22Clinica+Chimica+Acta%22">Clinica Chimica Acta</searchLink>. Oct2018, Vol. 485, p305-310. 6p.
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  Data: <searchLink fieldCode="DE" term="%22Liquid+chromatography-mass+spectrometry%22">Liquid chromatography-mass spectrometry</searchLink><br /><searchLink fieldCode="DE" term="%22Adrenoleukodystrophy%22">Adrenoleukodystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Bloodstains%22">Bloodstains</searchLink><br /><searchLink fieldCode="DE" term="%22Electrospray+ionization+mass+spectrometry%22">Electrospray ionization mass spectrometry</searchLink><br /><searchLink fieldCode="DE" term="%22Gas+chromatography%2FMass+spectrometry+%28GC-MS%29%22">Gas chromatography/Mass spectrometry (GC-MS)</searchLink>
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  Label: Abstract
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  Data: Background Elevated C26:0-lysophosphatidylcholine (LPC) is used as a biomarker to screen newborns for X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder. Our aim was to develop a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for estimating a panel of LPCs (C20:0, C22:0, C24:0 and C26:0) from dried blood spots (DBS) and to evaluate its sensitivity and specificity for identification of X-ALD in clinically suspected cases. Methods LPCs (C20:0 - C26:0) were extracted from 3.2 mm DBS, spiked with an isotopically labelled internal standard (C26:0-d4-LPC) in a 96-well plate, and measured by LC-MS/MS in electrospray ionization positive, multiple reaction monitoring mode. The sensitivity and specificity of the method was evaluated in 21 patients diagnosed with X-ALD and 375 healthy controls. Results Elevated C26:0 and C24:0-LPCs were 100% sensitive and specific for identification of X-ALD. The sensitivity and specificity of elevated C26:0/C20:0, C26/C22:0, C24:0/C20:0 and C24/C22:0-LPCs were > 80% and 70%, respectively. Conclusion The LC-MS/MS method for estimating LPCs in DBS can be used to identify X-ALD in clinically suspected patients. Further large-scale studies to determine the pre-analytical variables and to define age- and gender-specific reference ranges in various ethnic groups are warranted before introducing this method for high-risk screening in India. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Clinica Chimica Acta is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1016/j.cca.2018.07.007
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        Text: English
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      – SubjectFull: Liquid chromatography-mass spectrometry
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      – SubjectFull: Adrenoleukodystrophy
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      – SubjectFull: Bloodstains
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      – SubjectFull: Electrospray ionization mass spectrometry
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      – SubjectFull: Gas chromatography/Mass spectrometry (GC-MS)
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      – TitleFull: Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.
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              Text: Oct2018
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