Judit Bene*, Andras Szabo, Katalin Komlósi and Bela Melegh Pages 336 - 354 ( 19 )
Purpose: After a golden age of classic carnitine research three decades ago, the spread of mass spectrometry opened new perspectives and a much better understanding of the carnitine system is available nowadays. In the classic period, several human and animal studies were focused on various distinct physiological functions of this molecule and these revealed different aspects of carnitine homeostasis in normal and pathological conditions. Initially, the laboratory analyses were based on the classic or radioenzymatic assays, enabling only the determination of free and total carnitine levels and calculation of total carnitine esters’ amount without any information on the composition of the acyl groups. The introduction of mass spectrometry allowed the measurement of free carnitine along with the specific and sensitive determination of different carnitine esters. Beyond basic research, mass spectrometry study of carnitine esters was introduced into the newborn screening program because of being capable to detect more than 30 metabolic disorders simultaneously. Furthermore, mass spectrometry measurements were performed to investigate different disease states affecting carnitine homeostasis, such as diabetes, chronic renal failure, celiac disease, cardiovascular diseases, autism spectrum disorder or inflammatory bowel diseases.Results: This article will review the recent advances in the field of carnitine research with respect to mass spectrometric analyses of acyl-carnitines in normal and various pathological states. Conclusion: The growing number of publications using mass spectrometry as a tool to investigate normal physiological conditions or reveal potential biomarkers of primary and secondary carnitine deficiencies shows that this tool brought a new perspective to carnitine research.
L-carnitine, acylcarnitines, mass spectrometry, carnitine homeostasis, cardiovascular diseases, diabetes, autism spectrum disorder, chronic renal failure.
Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs