Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS.
Acylcarnitines are formed by esterification between fatty acids CoA or organic acids CoA molecules and carnitine. In various fatty acids oxidation defects and organic acidurias, there is increased concentration of corresponding acylcarnitines. Abnormalities in specific acylcarnitines are used in the diagnosis of fatty acids oxidation defects and organic acidurias. Most commonly used method for the assay of acylcarnitines is HPLC-tandem mass spectrometry (HPLC/MS/MS). A HPLC/MS/MS method is described for the quantification of number of acylcarnitines. The method involves butylation of carnitine/acylcarnitines using acidified butanol, HPLC flow injection, and measurement of acylcarnitines using precursor ion scan and multiple reactions monitoring (MRM).
Methods in molecular biology (Clifton, N.J.)
Blood Chemical Analysis; Carnitine; Chromatography, High Pressure Liquid; Humans; Reference Standards; Tandem Mass Spectrometry
Fatty acid oxidation defects; HPLC; Inborn error of metabolism; Inherited metabolic disorders; Mass spectrometry; Medium chain acyl-CoA dehydrogenase deficiency; Organic acidemia; Organic acidurias
Scott, D., Heese, B., Garg, U. Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS. Methods in molecular biology (Clifton, N.J.) 1378, 11-19 (2016).