title: Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS.
abstract: 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).
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO, 64108, USA.
authors.forename: David
authors.initials: D
authors.lastname: Scott
authors.affiliation: Department of Pediatrics, Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.
authors.forename: Bryce
authors.initials: B
authors.lastname: Heese
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO, 64108, USA. ugarg@cmh.edu.|University of Missouri School of Medicine, Kansas City, MO, USA. ugarg@cmh.edu.
authors.forename: Uttam
authors.initials: U
authors.lastname: Garg
mesh_terms: D001774:Blood Chemical Analysis / Q000379:methods* / Q000592:standards; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood*; D002851:Chromatography, High Pressure Liquid / Q000379:methods* / Q000592:standards; D006801:Humans; D012015:Reference Standards; D053719:Tandem Mass Spectrometry / Q000379:methods* / Q000592:standards
chemical_list: C116917:acylcarnitine; D002331:Carnitine
keywords: Fatty acid oxidation defects; HPLC; Inborn error of metabolism; Inherited metabolic disorders; Mass spectrometry; Medium chain acyl-CoA dehydrogenase deficiency; Organic acidemia; Organic acidurias