ArticleMolecular genetics and metabolism2015
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed.
- A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.Journal of human genetics · 2018Trial
- Anesthesia and bariatric surgery gut preparation alter plasma acylcarnitines reflective of mitochondrial fat and branched-chain amino acid oxidation.American journal of physiology. Endocrinology and metabolism · 2017Trial
- Recent advances in the bioanalysis of acylcarnitines: Methodologies, challenges, and clinical perspectives.Pharmaceutical science advances · 2026Review
- Rational analysis of data from LC-MS/MS: new insights in acylcarnitines as biomarkers for brain disorders or neurotoxicity.Frontiers in pharmacology · 2024Article
- Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.Molecular genetics and metabolism · 2023Article
- Quantitative Profiling of Serum Carnitines Facilitates the Etiology Diagnosis and Prognosis Prediction in Heart Failure.Molecules (Basel, Switzerland) · 2023Article
- Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression.Translational psychiatry · 2021Article
- Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population.Frontiers in pediatrics · 2021Article
- Mass Spectral Library of Acylcarnitines Derived from Human Urine.Analytical chemistry · 2020Article
- Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes.Journal of affective disorders · 2020Article
- Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis.Current molecular medicine · 2020Review
- Article
- Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- HIF drives lipid deposition and cancer in ccRCC via repression of fatty acid metabolism.Nature communications · 2017Article
- Effect of Maternal Obesity on Placental Lipid Metabolism.Endocrinology · 2017Article
- Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.Molecular genetics and metabolism · 2017Article
- Acylcarnitines as markers of exercise-associated fuel partitioning, xenometabolism, and potential signals to muscle afferent neurons.Experimental physiology · 2017Article
- Mitochondrial Metabolism in Aging Heart.Circulation research · 2016Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
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 acylcarnitines 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 acylcarnitine quantification is necessary.
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