Evidence map›Paper›PMID 33147805›Full record

ArticleInternational journal of neonatal screening2020

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism.

Willemijn J van Rijt, Peter C J I Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H van der Sluijs, Terry G J Derks, M Rebecca Heiner-Fokkema

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In one paragraph

Article in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Investigation into temporal changes in the human bloodstain lipidome.International journal of legal medicine · 2025
    Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Willemijn J van RijtSection of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-9154-5537
Peter C J I SchielenReference Laboratory for Neonatal Screening, Centre for Health Protection, National Institute for Public Health and the Environment, 3721 BA Bilthoven, The Netherlands.ORCID 0000-0002-5630-7322
Yasemin ÖzerLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Klaas BijsterveldLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Fjodor H van der SluijsLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Terry G J DerksSection of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-7259-1095
M Rebecca Heiner-FokkemaLaboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.ORCID 0000-0002-3477-0770

Funding

SELECTIVE LABELING OF NOCICEPTOR-RELATED SYSTEMSF06TW001530 · FIC · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI KRUGER, LAWRENCE · 1989 to 1989
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Alfasigma Nederland BV O3017Junior Scientific Masterclass MD/PhD 15-30Ubbo Emmius Fonds-Junior Scientific Masterclass Talent Grant 154 315
6 · The paper itself

Abstract

Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inborn errors of metabolism, and for validation studies for newborn blood spot screening programs. Acylcarnitine species are subject to degradation upon long-term storage at room temperature, but limited data are available on the stability in original samples and the impact on acylcarnitine ratios. We analysed complete acylcarnitine profiles by flow-injection tandem mass spectrometry in 598 anonymous DBS stored from 2013 to 2017, at +4 °C during the first year and thereafter at room temperature. The concentrations of C2-, C3-, C4-, C5-, C6-, C8-, C10:1-, C10-, C12:1-, C12-, C14:1-, C14-, C16:1-, C16-, C18:2-, C18:1-, C18-, C5OH+C4DC-, C18:1OH-, and C16DC-carnitine decreased significantly, whereas a positive trend was found for free carnitine. Only the C4/C8-, C8/C10-, C14:1/C10- and C14:1/C16-carnitine ratios appeared robust for the metabolite instability. The metabolite instability may provoke the wrong interpretation of test results in the case of retrospective studies and risk the inaccurate estimation of cut-off targets in validation studies when only stored control DBS are used. We recommend including control DBS in diagnostic, retrospective cohort studies, and, for validation studies, we recommend using fresh samples and repeatedly re-evaluating cut-off targets.

Indexed as

acylcarnitinedried blood spotinborn error of metabolismmetabolite instabilitymetabolite stabilitynewborn blood spot screeningretrospective diagnosisstoragetandem mass spectrometry

Identifiers

PMID33147805
PMCPMC7712882

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.