Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, and the adrenal cortex. Newborn screening for X-ALD has been proposed to allow improved diagnosis along with prospective monitoring and treatment for this severe disorder. Newborn dried whole blood spot (DBS) 26:0 lysophosphatidyl choline was validated as a diagnostic marker for X-ALD and other peroxisomal disorders of peroxisomal β-oxidation. In this study, we developed a new one step extraction procedure that simultaneously extracts acyl carnitines and the lysophosphatidyl cholines from DBS. Further analysis of these metabolites has been performed by two different high throughput LC-MS/MS methods. The 26:0 lysophosphatidyl choline levels in this study were consistent with previously published values and discriminate between healthy and abnormal profiles. There is a very minor modification to the original acyl carnitine extraction procedure and our data indicates that there is no significant effect on acyl carnitine levels in DBS. Our new method potentially can be complementary to the current newborn screening panel. It successfully combines the existing method for acyl carnitine analysis and 26:0 lysophosphatidyl choline that can be applied for prospective X-ALD newborn screening.
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Determination of C26:0 lysophosphatidylcholine (C26:0-LPC) from dried blood spots has turned out to be most promising for high-throughput biochemical screening for X-ALD and other metabolic disorders.
“Determination of C26:0 lysophosphatidylcholine (C26:0-LPC) from dried blood spots has turned out to be most promising and slightly different methods based on tandem mass spectrometry (MS/MS) were reported by different laboratories.68–71”
From The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis (2015) · cites this paper as [70]
Cites
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works
Self-citationNygren, H., Seppänen-Laakso, T., Castillo, S., Hyötyläinen, T., & Orešič, M. (2011) · Methods in Molecular Biology · doi:10.1007/978-1-61737-985-7_15 · Cited by 154 · see citing works
HUBBARD, W., MOSER, A., TORTORELLI, S., LIU, A., JONES, D., & MOSER, H. (2006) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.05.001 · Cited by 108 · see citing works
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology · doi:10.1212/wnl.0000000000201374 · Cited by 156 · see citing works
Self-citationBerger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics · doi:10.2147/tacg.s49590 · Cited by 140 · see citing works
Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.10.012 · Cited by 71 · see citing works
- Authors
- Sandlers, Y., Moser, A. B., Hubbard, W. C., Kratz, L. E., Jones, R. O., & Raymond, G. V.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- Corresponding author
- Sandlers, Yana
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 105
- Issue
- 3
- Pages
- 416-420
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2092397875
- Cited by
- 38
- References
- 3
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 1 · 2022: 5 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 5 · 2016: 6 · 2015: 6 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 0.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- EngagedScholarship @ Cleveland State University (Cleveland State University) (submittedVersion)
- Funders
- NIH (1S10 RR16798)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Metabolomics and Mass Spectrometry Studies
- Keywords
- X-linked adrenoleukodystrophy, newborn screening, dried blood spots, acylcarnitines, combined extraction, peroxisomal disorders, peroxisomal beta-oxidation, diagnostic biomarkers, LC-MS/MS
- MeSH terms
- Adrenoleukodystrophy, Carnitine, Chromatography, Liquid, Humans, Infant, Newborn, Lysophosphatidylcholines, Mass Spectrometry, Neonatal Screening, Peroxisomal Disorders, Peroxisomes, Molecular Diagnostic Techniques, Dried Blood Spot Testing
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