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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

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