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.
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.
Maeda
Yasuhiro
Y
Laboratory of Hospital Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabe-dori, Mizuho-ku, Nagoya 467-8603, Japan. maeda@phar.nagoya-cu.ac.jp
Ito
Tetsuya
T
Ohmi
Hironori
H
Yokoi
Kyoko
K
Nakajima
Yoko
Y
Ueta
Akihito
A
Kurono
Yukihisa
Y
Togari
Hajime
H
Sugiyama
Naruji
N
D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood / Q000652:urine; D002853:Chromatography, Liquid; D006801:Humans; D009100:Multiple Carboxylase Deficiency / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D015203:Reproducibility of Results; D053719:Tandem Mass Spectrometry
C098116:3-hydroxyisovalerylcarnitine; D002331:Carnitine