NDLI: Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

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Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

Content Provider	MDPI
Author	Teber, Tarek A. Conti, Brian J. Haynes, Christopher A. Hietala, Amy Baker, Mei W.
Copyright Year	2022
Description	X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid, and lead to C26:0-lysophosphatidylcholine (C26:0-LPC) accumulation, which is the primary biomarker used in newborn screening (NBS) for X-ALD. C26:0-LPC levels were measured in dried blood spot (DBS) NBS specimens using a flow injection analysis (FIA) coupled with electrospray ionization (ESI) tandem mass spectrometry (MS/MS) performed in negative ion mode. The method was validated by assessing and confirming linearity, accuracy, and precision. We have also established C26:0-LPC cutoff values that identify newborns at risk for X-ALD. The mean concentration of C26:0-LPC in 5881 de-identified residual routine NBS specimens was 0.07 ± 0.02 µM (mean + 1 standard deviation (SD)). All tested true X-ALD positive and negative samples were correctly identified based on C26:0-LPC cutoff concentrations for borderline between 0.15 µM and 0.22 µM (mean + 4 SD) and presumptive screening positive at ≥0.23 µM (mean + 8 SD). The presented FIA method shortens analysis run-time to 1.7 min, while maintaining the previously established advantage of utilizing negative mode MS to eliminate isobaric interferences that could lead to screening false positives.
Starting Page	27
e-ISSN	2409515X
DOI	10.3390/ijns8020027
Journal	International Journal of Neonatal Screening
Issue Number	2
Volume Number	8
Language	English
Publisher	MDPI
Publisher Date	2022-04-14
Access Restriction	Open
Subject Keyword	International Journal of Neonatal Screening Endocrinology and Metabolism Dried Blood Spots Flow Injection Analysis C26:0-lysophosphatidylcholine Newborn Screening Tandem Mass Spectrometry X-linked Adrenoleukodystrophy
Content Type	Text
Resource Type	Article

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