期刊
MOLECULAR GENETICS AND METABOLISM
卷 116, 期 4, 页码 231-241出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2015.10.002
关键词
Quantitative acylcarnitine analysis; Second-tier analysis; Newborn screening follow-up; Carnitine analysis; Metabolism research
资金
- National Institutes of Health [1301 AG15885]
- Center for Mitochondrial Diseases in the Department of Pharmacology at Case Western Reserve University School of Medicine
- Center for Inherited Disorders of Energy Metabolism (CIDEM)
- University Hospitals Case Medical Center, Cleveland, OH
Tandem MS profiling of acylcarnitines and amino acids was conceived as a first-tier screening method, and its application to expanded newborn screening has been enormously successful. However, unlike amino acid screening (which uses amino acid analysis as its second-tier validation of screening results), acylcarnitine profiling also assumed the role of second-tier validation, due to the lack of a generally accepted second-tier acylcarnitine determination method. In this report, we present results from the application of our validated UHPLC-MS/MS second-tier method for the quantification of total carnitine, free carnitine, butyrobetaine, and acylcamitines to patient samples with known diagnoses: malonic acidemia, short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBD), 3-methyl-crotonyl carboxylase deficiency (3-MCC) or ss-ketothiolase deficiency (BKT), and methylmalonic acidemia (MMA). We demonstrate the assay's ability to separate constitutional isomers and diastereomeric acylcarnitines and generate values with a high level of accuracy and precision. These capabilities are unavailable when using tandem MS profiles. We also show examples of research interest, where separation of acylcarnitine species and accurate and precise acylcamitine quantification is necessary. (c) 2015 Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据