<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Analysis of the acylcarnitines’ (ACs) is the mainstay for screening for fatty acid oxidation disorders (FAOD). Data about the ACs profile in the dried blood spot samples of healthy newborns in Serbia are not at disposal. Therefore, we determined the ACs levels and established the cut-offs. Between August 2018 and August 2019 a total of 1771 samples had been analysed. Cut-offs, established using a non-parametric approach, were verified in comparison with the worldwide target ranges and the data for several Caucasian populations. The majority of ACs had comparable distribution in Serbian and the worldwide population. In case of discrepancy, the individual alterations had a frequency of less than 10%. Seventeen out of 25 established cutoffs were in the worldwide target range. Reliability of the cut-offs positioning out of the target ranges is not jeopardized, since alterations are negligible or similar findings were reported for other Caucasian populations. The established and verified set of cut-offs can be used in the future screening for carnitine uptake/transport defect, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, carnitine palmitoyltransferase deficiency Ia and II, as well as carnitine:acylcarnitine translocase deficiency.</p>
</abstract>

Analysis of the acylcarnitines’ (ACs) is the mainstay for screening for fatty acid oxidation disorders (FAOD). Data about the ACs profile in the dried blood spot samples of healthy newborns in Serbia are not at disposal. Therefore, we determined the ACs levels and established the cut-offs. Between August 2018 and August 2019 a total of 1771 samples had been analysed. Cut-offs, established using a non-parametric approach, were verified in comparison with the worldwide target ranges and the data for several Caucasian populations. The majority of ACs had comparable distribution in Serbian and the worldwide population. In case of discrepancy, the individual alterations had a frequency of less than 10%. Seventeen out of 25 established cutoffs were in the worldwide target range. Reliability of the cut-offs positioning out of the target ranges is not jeopardized, since alterations are negligible or similar findings were reported for other Caucasian populations. The established and verified set of cut-offs can be used in the future screening for carnitine uptake/transport defect, medium-chain acyl-CoA dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, carnitine palmitoyltransferase deficiency Ia and II, as well as carnitine:acylcarnitine translocase deficiency.

Acylcarnitines’ Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study

Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine

Charles University and General University Hospital

Experimental and Applied Biomedical Research (EABR)

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Analysis of the acylcarnitines’ (ACs) is the mainstay for screening for fatty acid oxidation disorders (FAOD). Data about the ACs profile in the dried blood...

Acylcarnitines’ Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study

Publié en ligne: 29 sept. 2023

Pages: 193 - 198

Reçu: 22 nov. 2020

Accepté: 02 janv. 2021

DOI: https://doi.org/10.2478/sjecr-2021-0021

Mots clés
Acylcarnitines, newborns, fatty acid oxidation, tandem mass spectrometry, Serbia

© 2023 Andjelo Beletic et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Acylcarnitines’ Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study

Publié en ligne: 29 sept. 2023

Pages: 193 - 198

Reçu: 22 nov. 2020

Accepté: 02 janv. 2021

DOI: https://doi.org/10.2478/sjecr-2021-0021

Mots clésAcylcarnitines, newborns, fatty acid oxidation, tandem mass spectrometry, Serbia

© 2023 Andjelo Beletic et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Mots clés
Acylcarnitines, newborns, fatty acid oxidation, tandem mass spectrometry, Serbia