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Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In...

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Autores principales: Dijkstra, Allysa M., de Blaauw, Pim, van Rijt, Willemijn J., Renting, Hanneke, Maatman, Ronald G. H. J., van Spronsen, Francjan J., Maase, Rose E., Schielen, Peter C. J. I., Derks, Terry G. J., Heiner-Fokkema, M. Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366855/
https://www.ncbi.nlm.nih.gov/pubmed/37489487
http://dx.doi.org/10.3390/ijns9030034
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author Dijkstra, Allysa M.
de Blaauw, Pim
van Rijt, Willemijn J.
Renting, Hanneke
Maatman, Ronald G. H. J.
van Spronsen, Francjan J.
Maase, Rose E.
Schielen, Peter C. J. I.
Derks, Terry G. J.
Heiner-Fokkema, M. Rebecca
author_facet Dijkstra, Allysa M.
de Blaauw, Pim
van Rijt, Willemijn J.
Renting, Hanneke
Maatman, Ronald G. H. J.
van Spronsen, Francjan J.
Maase, Rose E.
Schielen, Peter C. J. I.
Derks, Terry G. J.
Heiner-Fokkema, M. Rebecca
author_sort Dijkstra, Allysa M.
collection PubMed
description Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013–2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry. Stability was assessed by AA changes over the five years. Hydroxyproline could not be measured accurately and was not further assessed. Concentrations of 19 out of the remaining 22 AAs degraded significantly, ranked from most to least stable: aspartate, isoleucine, proline, valine, leucine, tyrosine, alanine, phenylalanine, threonine, citrulline, glutamate, serine, ornithine, glycine, asparagine, lysine, taurine, tryptophan and glutamine. Arginine, histidine and methionine concentrations were below the limit of detection and were likely to have been degraded within the first year of storage. AAs in residual heel prick DBS stored at room temperature are subject to substantial degradation, which may cause incorrect interpretation of test results for retrospective biomarker studies and IMD diagnostics. Therefore, retrospective analysis of heel prick blood should be done in comparison to similarly stored heel prick blood from controls.
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spelling pubmed-103668552023-07-26 Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots Dijkstra, Allysa M. de Blaauw, Pim van Rijt, Willemijn J. Renting, Hanneke Maatman, Ronald G. H. J. van Spronsen, Francjan J. Maase, Rose E. Schielen, Peter C. J. I. Derks, Terry G. J. Heiner-Fokkema, M. Rebecca Int J Neonatal Screen Article Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013–2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry. Stability was assessed by AA changes over the five years. Hydroxyproline could not be measured accurately and was not further assessed. Concentrations of 19 out of the remaining 22 AAs degraded significantly, ranked from most to least stable: aspartate, isoleucine, proline, valine, leucine, tyrosine, alanine, phenylalanine, threonine, citrulline, glutamate, serine, ornithine, glycine, asparagine, lysine, taurine, tryptophan and glutamine. Arginine, histidine and methionine concentrations were below the limit of detection and were likely to have been degraded within the first year of storage. AAs in residual heel prick DBS stored at room temperature are subject to substantial degradation, which may cause incorrect interpretation of test results for retrospective biomarker studies and IMD diagnostics. Therefore, retrospective analysis of heel prick blood should be done in comparison to similarly stored heel prick blood from controls. MDPI 2023-06-21 /pmc/articles/PMC10366855/ /pubmed/37489487 http://dx.doi.org/10.3390/ijns9030034 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Dijkstra, Allysa M.
de Blaauw, Pim
van Rijt, Willemijn J.
Renting, Hanneke
Maatman, Ronald G. H. J.
van Spronsen, Francjan J.
Maase, Rose E.
Schielen, Peter C. J. I.
Derks, Terry G. J.
Heiner-Fokkema, M. Rebecca
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title_full Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title_fullStr Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title_full_unstemmed Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title_short Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
title_sort important lessons on long-term stability of amino acids in stored dried blood spots
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10366855/
https://www.ncbi.nlm.nih.gov/pubmed/37489487
http://dx.doi.org/10.3390/ijns9030034
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