Volume 12, Issue 4 (Vol.12 No.4 Jan 2024)                   rbmb.net 2024, 12(4): 522-529 | Back to browse issues page

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Abdulridha J S, Mashkani B, Alaei A, Boskabadi M, Varasteh A, Keyfi F. Determination of Normal Range of Acylcarnitine in Neonatal Dried Blood Spots using LC-MS/MS. rbmb.net 2024; 12 (4) :522-529
URL: http://rbmb.net/article-1-879-en.html
Department of Clinical Biochemistry, Mashhad University of Medical Sciences, Mashhad, Iran.
Abstract:   (538 Views)
Background: Acylcarnitine is one of the crucial markers of fatty acid metabolism, and examination of their level in infants can reveal several Inherited Metabolic Disorders (IDM) or Inborn errors of Metabolism (IEM). Because of the great importance of hereditary, metabolic, and other inherited disorders early diagnosis before the appearance of clinical symptoms, this study was carried out to establish a reference range for carnitine analytes and to identify acylcarnitine profiles in normal weight neonatal dried blood spots (DBS) specimens.

Methods: By using liquid chromatography tandem mass spectrometry (LC-MS/MS) for neonatal screening and eventually the examination and analysis of LC-MS/MS results, 34 acylcarnitine derivatives were identified.

Results: The normal range for acylcarnitine analytes with carbon numbers ranging from zero to 18, both main and the branched ones, were ultimately measured. Afterward, they were compared with the results of some other diagnostic laboratories to be verified.
Conclusion: This study differed from the other findings, which could be due to diversity in population and work methods. However, the reference range of most acylcarnitine derivatives in Tehran closely aligned with this study's findings.
Full-Text [PDF 248 kb]   (182 Downloads)    
Type of Article: Original Article | Subject: Biochemistry
Received: 2022/02/13 | Accepted: 2022/02/20 | Published: 2024/07/2

References
1. Chaturvedi S, Singh AK, Keshari AK, Maity S, Sarkar S, Saha S. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach. Scientifica (Cairo). 2016;2016:9828672. [DOI:10.1155/2016/9828672] [PMID] []
2. Chantada-Vázquez MDP, Bravo SB, Barbosa-Gouveia S, Alvarez JV, Couce ML. Proteomics in Inherited Metabolic Disorders. Int J Mol Sci. 2022;23(23):14744. [DOI:10.3390/ijms232314744] [PMID] []
3. Batchuluun B, Al Rijjal D, Prentice KJ, Eversley JA, Burdett E, Mohan H, et al. Elevated Medium-Chain Acylcarnitines Are Associated With Gestational Diabetes Mellitus and Early Progression to Type 2 Diabetes and Induce Pancreatic β-Cell Dysfunction. Diabetes. 2018;67(5):885-897. [DOI:10.2337/db17-1150] [PMID] []
4. Li S, Gao D, Jiang Y. Function, Detection and Alteration of Acylcarnitine Metabolism in Hepatocellular Carcinoma. Metabolites. 2019;9(2):36. [DOI:10.3390/metabo9020036] [PMID] []
5. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;7:68. [DOI:10.1186/1750-1172-7-68] [PMID] []
6. Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999;21(1):91-4. [DOI:10.1038/5030] [PMID]
7. Tein I. Disorders of fatty acid oxidation. Handb Clin Neurol. 2013;113:1675-88. [DOI:10.1016/B978-0-444-59565-2.00035-6] [PMID]
8. Fukuda M, Kawabe M, Takehara M, Iwano S, Kuwabara K, et al. Carnitine deficiency: Risk factors and incidence in children with epilepsy. Brain Dev. 2015;37(8):790-6. [DOI:10.1016/j.braindev.2014.12.004] [PMID]
9. Keyfi F, Nasseri M, Nayerabadi S, Alaei A, Mokhtariye A, Varasteh A. Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates. Hum Hered. 2018;83(2):71-78. [DOI:10.1159/000488876] [PMID]
10. Gucciardi A, Zaramella P, Costa I, Pirillo P, Nardo D, Naturale M, et al. Analysis and interpretation of acylcarnitine profiles in dried blood spot and plasma of preterm and full-term newborns. Pediatr Res. 2015;77(1-1):36-47. [DOI:10.1038/pr.2014.142] [PMID]
11. Céspedes N, Valencia A, Echeverry CA, Arce-Plata MI, Colón C, Castiñeiras DE, et al. Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia. Colomb Med (Cali). 2017;48(3):113-119. [DOI:10.25100/cm.v48i3.2180] [PMID] []
12. Meng M, Wang L, Voelker T, Reuschel S, Van Horne K, Bennett P. A systematic approach for developing a robust LC-MS/MS method for bioanalysis. Bioanalysis. 2013;5(1):91-115. [DOI:10.4155/bio.12.295] [PMID]
13. Vieira Neto E, Fonseca AA, Almeida RF, Figueiredo MP, Porto MA, Ribeiro MG. Analysis of acylcarnitine profiles in umbilical cord blood and during the early neonatal period by electrospray ionization tandem mass spectrometry. Braz J Med Biol Res. 2012;45(6):546-56. [DOI:10.1590/S0100-879X2012007500056] [PMID] []
14. Wang B, Zhang Q, Wang Q, Ma J, Cao X, Chen Y, et al. Investigating the Metabolic Model in Preterm Neonates by Tandem Mass Spectrometry: A Cohort Study. Horm Metab Res. 2021;53(2):112-123. https://doi.org/10.1055/a-1325-3731 [DOI:10.1055/a-1300-2294]
15. Walter JH, Patterson A, Till J, Besley GT, Fleming G, Henderson MJ. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study. J Inherit Metab Dis. 2009;32(1):95-101. [DOI:10.1007/s10545-008-1047-y] [PMID]
16. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011;13(3):230-54. [DOI:10.1097/GIM.0b013e31820d5e67] [PMID]
17. De Jesús VR, Chace DH, Lim TH, Mei JV, Hannon WH. Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry. Clin Chim Acta. 2010;411(9-10):684-9. [DOI:10.1016/j.cca.2010.01.034] [PMID]

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