Determination of 3-hydroxyisovalerylcarnitine and other acylcarnitine levels using liquid chromatography-tandem mass spectrometry in serum and urine of a patient with multiple carboxylase deficiency

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):154-9. doi: 10.1016/j.jchromb.2007.11.037. Epub 2007 Dec 4.

Abstract

Due to its increased concentration in blood, 3-hydroxyisovalerylcarnitine (C5OH-I) is an important indicator for the diagnosis of organic acidemias in newborns. However, C5OH-I has not been used as a standard in tandem mass spectrometric (MS/MS) assays because its isolation is difficult. We developed a new synthesis of C5OH-I and investigated its behavior by MS/MS. A method using the multiple reaction monitoring (MRM) mode of MS/MS with HPLC was developed which provides high accuracy, precision and reproducibility. Acylcarnitine profiles in the serum and urine of a patient with multiple carboxylase deficiency (MCD) showed increased levels compared to a healthy patient.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Carnitine / urine
  • Chromatography, Liquid*
  • Humans
  • Multiple Carboxylase Deficiency / blood
  • Multiple Carboxylase Deficiency / diagnosis*
  • Multiple Carboxylase Deficiency / urine
  • Reproducibility of Results
  • Tandem Mass Spectrometry*

Substances

  • 3-hydroxyisovalerylcarnitine
  • Carnitine