UNIT 17.8 Acylcarnitine Analysis by Tandem Mass Spectrometry

  1. Emily H. Smith,
  2. Dietrich Matern

Published Online: 1 JAN 2010

DOI: 10.1002/0471142905.hg1708s64

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Smith, E. H. and Matern, D. 2010. Acylcarnitine Analysis by Tandem Mass Spectrometry. Current Protocols in Human Genetics. 64:17.8:17.8.1–17.8.20.

Author Information

  1. Mayo Clinic College of Medicine, Rochester, Minnesota

Publication History

  1. Published Online: 1 JAN 2010
  2. Published Print: JAN 2010


Carnitine plays an essential role in fatty acid metabolism, as well as modulation of intracellular concentrations of free coenzyme A by esterification of acyl residues. Acylcarnitine analysis of various biological fluids is a sensitive method to detect >20 inborn errors of metabolism that result in abnormal accumulation of acylcarnitine species due to several organic acidemias and most fatty acid β-oxidation disorders. In addition, acylcarnitine analysis may aid in monitoring treatment of known patients affected with these inborn errors of metabolism. This unit describes protocols that can be used to measure acylcarnitine species of various carbon chain lengths in several biological specimen types including plasma, dried blood and bile spots, and urine, by derivatization to butylesters and flow-injection electrospray ionization tandem mass spectrometry (ESI-MS/MS). Curr. Protoc. Hum. Genet. 64:17.8.1-17.8.20. © 2010 by John Wiley & Sons, Inc.


  • acylcarnitines;
  • carnitine;
  • fatty acid oxidation;
  • inborn errors of metabolism;
  • organic acids;
  • tandem mass spectrometry