Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.
This paper reports a new, high-performance liquid chromatography/tandem mass spectrometry method for the separation and identification of human plasma short-chain acylcarnitine isomers. This simple, rapid procedure involves the use of a single sample previously shown to contain elevated acylcarnitine concentrations by flow injection analysis, and can separate two C4, three C5, two C5:1 and four C5-OH acylcarnitine isomers, thus permitting the differential diagnosis of certain fatty acid oxidation defects and organic acidemias.
Ferrer
Isaac
I
Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad de Ciencias, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
Ruiz-Sala
Pedro
P
Vicente
Yolanda
Y
Merinero
Begoña
B
Pérez-Cerdá
Celia
C
Ugarte
Magdalena
M
D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000302:isolation & purification; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005260:Female; D006801:Humans; D007536:Isomerism; D008297:Male; D053719:Tandem Mass Spectrometry / Q000379:methods*
C116917:acylcarnitine; D002331:Carnitine