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Instability of acylcarnitine and amino acids in dried blood spots preserved at various temperatures: the impact on retrospective analysis of inborn errors of metabolism biomarkers

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Abstract

Stored dried blood spots (DBSs) give significant specimens for retrospective detection of inborn errors of metabolisms (IEM) including for validation studies through newborn screening (NBS) programs. Inborn errors of metabolisms have severe medical outcomes in infants and newborns, and initial identification and errors of metabolism treatment can lessen morbidity and mortality. The study investigated the impacts of different conditions for storage (humidity and temperature) experienced throughout the stored dried blood specimen gathering and transportation of the metabolites tested in the NBS program. Stored dried blood spots collected from healthy newborns and kept at room temperatures (RT, 22–25 °C), 37 °C, and 4 °C were examined for acylcarnitine and amino acid panels for 5 days, 1 month, and 2 months using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The outcomes display the decay patterns of amino acids and acylcarnitines at different temperatures and elevated humidity. The study findings indicate that humidity and temperature during sample transit affect the integrity of stored dried blood within a short period. The packaging of blood spots should be done correctly and sent to a newborn screening laboratory immediately. Including a maintained stored dried blood kept along with earlier specimens utilized in retrospective diagnostic cohort studies would give insights into the sample’s condition.

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Data availability

The datasets used and analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

The authors are very thankful to all the associated personnel in any reference that contributed in/for the purpose of this research. The authors thank the Research Center at the King Fahad Medical City (KFMC; Riyadh), for their valuable support in the preparation of this manuscript. I would like to acknowledge and thank my supervisors, Dr. Zahir Alshehry, Dr. Abdullah Alshehri, and Prof. Mohammed Zourob, who enabled this study. Their guidance and advice helped me throughout all stages of my project. I would also like to thank Mr. Haitham, Mrs. Abeer, and Ms. Maram for their valuable contributions to this project.

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Authors and Affiliations

  1. King Fahad Medical City, Alfaisal University, P.O. Box. 59046, Riyadh, 11525, Kingdom of Saudi Arabia

    Zaed A. Asiri

  2. King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia

    Zahir H. Alshehry, Haitham M. Al Shomar, Abeer AlGadhi & Abdullah S. Alshehri

  3. Alfaisal University, Riyadh, Kingdom of Saudi Arabia

    Mohammed Zourob

  4. King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia

    Maram S. Alharbi

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  1. Zaed A. Asiri
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  2. Zahir H. Alshehry
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  3. Mohammed Zourob
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  7. Abdullah S. Alshehri
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Correspondence to Zaed A. Asiri.

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Asiri, Z.A., Alshehry, Z.H., Zourob, M. et al. Instability of acylcarnitine and amino acids in dried blood spots preserved at various temperatures: the impact on retrospective analysis of inborn errors of metabolism biomarkers. Comp Clin Pathol (2024). https://doi.org/10.1007/s00580-024-03568-4

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