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.

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.

• Authors: Yasuhiro Maeda, Tetsuya Ito, Hironori Ohmi, Kyoko Yokoi, Yoko Nakajima, Akihito Ueta, Yukihisa Kurono, Hajime Togari, Naruji Sugiyama
• Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 870 Issue 2 Pg. 154-9 (Jul 15 2008) ISSN: 1570-0232 [Print] Netherlands
• PMID: 18088573 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• 3-hydroxyisovalerylcarnitine
• Carnitine

Topics

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