Acylcarnitines tandem mass spectrometry

Fig. 3.2.4 Structures of the isomers 2-methylbutyryl- and isovalerylcarnitine. These isomers can not be differentiated by acylcarnitine analysis as described here because both appear as butylated Cs-acylcarnitine esters at m/z 302. Differentiation would require an additional chromatography step prior to tandem mass spectrometry analysis...

Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 13 321-324... 

Millington DS, Norwood DL, Kodo N, Roe CR, Inoue F (1989) Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem 180 331-339... 

Ghoshal AK, Guo T, Soukhova N, Soldin SJ (2005) Rapid measurement of plasma acylcarnitines by liquid chromatography-tandem mass spectrometry without derivatization. Clin Chim Acta 358 104-112... 

Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem 2001 47 1166-82. 

Chace DH, Hillman SL, Vanhove JLK, Naylor EW. Rapid diagnosis of MCAD deficiency—quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997 43 2106-13. 

Acylcarnitines (AC) by Tandem Mass Spectrometry (MS-MS) are Useful to Monitor Dietary Treatment... 

Paglia G, D Apolito O, Corso G. Precursor ion scan profiles of acylcarnitines by atmospheric pressure thermal desorption chemical ionization tandem mass spectrometry. Rapid Commun Mass Spectrom 2008 22 3809-3815. 

Reference values for the acylcarnitines are derived from >500 patients, mostly pediatric (0.2-16 yrs), evaluated for metabolic disorders in the author s laboratory but with no manifest biochemical evidence of disease. Individuals with any markedly abnormal values were discounted. The analytical method used was tandem mass spectrometry with electrospray ionization. Internal standards used were stable isotope-labeled analogs of acetyl, propionyl, butyryl, octanoyl and palmitoyl carnitine. The values for straight-chain C2, C3, C4, C5, C6, C8, CIO, C14, C16 and Cl8 1 species are in pmol/1 and are derived from calibration curves using analytical standards all other values are ratios of the signal for the compound to an appropriate internal standard. All values are mean + 2 std. dev. except where a range is given... 

Bonafe, L, Troxler, H., Kuster, T. et al. (2000) Evaluation of urinary acylcarnitines by electospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Molec. Genet. Metab. 69, 302-311. 

The evolution of tandem mass spectrometry (MS) for the analysis of acylcarnitines of blood and fibroblasts has been critical in the identification of previously unrecognized inborn errors of L-isoleucine degradation, 2-methylbutyryl-CoA dehydrogenase [11, 12] and 2-methyl-3-hydroxybutyr-yl-CoA dehydrogenase deficiencies [13]. 

Rizzo, C., Boenzi, S., Wanders, R.J.A., Durain, M., Caruso, U. and Dionisi-Vici, C., Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis A novel tool for screening diagnosis using tandem mass spectrometry. Pediatr. Res., 53, 1013-1018 (2003). 

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