title: Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
abstract: 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.
authors.affiliation: Department of Medical Genetics and Medical Research, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Wei-Yi
authors.initials: WY
authors.lastname: Hsu
authors.forename: Wan-Yu
authors.initials: WY
authors.lastname: Lo
authors.forename: Chien-Chen
authors.initials: CC
authors.lastname: Lai
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Chang-Hai
authors.initials: CH
authors.lastname: Tsai
authors.forename: Yuhsin
authors.initials: Y
authors.lastname: Tsai
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
mesh_terms: 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*
chemical_list: D008744:Methylamines; C005855:trimethyloxamine; C023336:trimethylamine