Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Trimethyamine (TMA) and trimethylamine N-oxide (TMAO) are the most important urine parameters for diagnosing and monitoring trimethylaminuria. A rapid, simple, and specific method based on matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) was developed to determine the presence of TMA and TMAO in urine samples from patients with trimethylaminuria. Formation of the quaternary tetramethylamino iodide by derivatization of TMA with methyl iodide allows measurement of TMA by MALDI-TOFMS. The method is repeatable and reproducible, with coefficients of variance (CVs)<3%. This new method was used for direct determination of TMA and TMAO in urine specimens obtained from normal children and patients. The proposed method allows for rapid and reliable measurements of TMA and TMAO in urine specimens from patients affected by trimethylaminuria.
Hsu
Wei-Yi
WY
Department of Medical Genetics and Medical Research, China Medical University Hospital, Taichung, Taiwan.
Lo
Wan-Yu
WY
Lai
Chien-Chen
CC
Tsai
Fuu-Jen
FJ
Tsai
Chang-Hai
CH
Tsai
Yuhsin
Y
Lin
Wei-De
WD
Chao
Mei-Chyn
MC
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D008744:Methylamines / Q000652:urine*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods*
D008744:Methylamines; C005855:trimethyloxamine; C023336:trimethylamine