Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
Acylcarnitines are formed in the mitochondria by esterification between carnitine and acyl-CoAs. This occurs enzymatically via carnitine acyltransferases. Specific acylcarnitines accumulate as a result of various organic acidurias and fatty acid oxidation disorders, and, thus, acylcarnitines profiles are used for the diagnosis of these disorders. Acylcarnitines monitoring can also be used for the follow-up of patients with these disorders. Tandem mass spectrometry (MS/MS) is the most commonly used method for the analysis of acylcarnitines. An MS/MS method for the quantification of a number of acylcarnitines is described. The method involves butylation of acylcarnitines using acidified butanol. Butylated acylcarnitines are analyzed using flow injection and precursor ion scan. Multiple-reaction monitoring (MRM) is used for the analysis of low-molecular-weight acylcarnitines.
Methods in molecular biology (Clifton, N.J.)
Carnitine; Carnitine Acyltransferases; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Tandem Mass Spectrometry
Fatty acid oxidation defects; Inborn error of metabolism; Inherited metabolic disorders; Medium-chain acyl-CoA dehydrogenase deficiency; Organic acidemia; Organic acidurias; Tandem mass spectrometry
Scott D, Clinton Frazee C 3rd, Heese B, Garg U. Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders. Methods Mol Biol. 2022;2546:27-34. doi:10.1007/978-1-0716-2565-1_3