Determination of Normal Range of Acylcarnitine in Neonatal Dried Blood Spots using LC-MS/MS.

IF 1.6 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Reports of Biochemistry and Molecular Biology Pub Date : 2024-01-01 DOI:10.61186/rbmb.12.4.522

Jaafar Sadeq Abdulridha, Baratali Mashkani, Amin Alaei, Mostafa Boskabadi, Abdolreza Varasteh, Fatemeh Keyfi

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引用次数: 0

Abstract

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.

Conclusions: 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.

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利用 LC-MS/MS 测定新生儿干血斑中乙酰肉碱的正常范围

背景：乙酰肉碱是脂肪酸代谢的重要标志之一，检查婴儿体内的乙酰肉碱水平可发现多种遗传性代谢紊乱（IDM）或先天性代谢错误（IEM）。鉴于在临床症状出现之前及早诊断遗传性、代谢性和其他遗传性疾病的重要性，本研究旨在确定肉碱分析物的参考范围，并鉴定正常体重新生儿干血斑（DBS）标本中的酰基肉碱含量：方法：采用液相色谱串联质谱法（LC-MS/MS）进行新生儿筛查，并最终检查和分析LC-MS/MS结果，确定了34种酰基肉碱衍生物：结果：最终测定了碳原子数在 0 至 18 之间的主链和支链酰基肉碱分析物的正常范围。随后，将其与其他一些诊断实验室的结果进行比较，以进行验证：本研究与其他研究结果不同，这可能是由于人群和工作方法的多样性造成的。不过，德黑兰大多数酰基肉碱衍生物的参考范围与本研究的结果非常吻合。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reports of Biochemistry and Molecular Biology BIOCHEMISTRY & MOLECULAR BIOLOGY-

CiteScore

2.80

自引率

23.50%

发文量

审稿时长

10 weeks

期刊介绍： The Reports of Biochemistry & Molecular Biology (RBMB) is the official journal of the Varastegan Institute for Medical Sciences and is dedicated to furthering international exchange of medical and biomedical science experience and opinion and a platform for worldwide dissemination. The RBMB is a medical journal that gives special emphasis to biochemical research and molecular biology studies. The Journal invites original and review articles, short communications, reports on experiments and clinical cases, and case reports containing new insights into any aspect of biochemistry and molecular biology that are not published or being considered for publication elsewhere. Publications are accepted in the form of reports of original research, brief communications, case reports, structured reviews, editorials, commentaries, views and perspectives, letters to authors, book reviews, resources, news, and event agenda.