A rapid LC-MS/MS assay for detection and monitoring of underivatized branched-chain amino acids in maple syrup urine disease

Hamed Piri-Moghadam,Alan Miller,Debra Pronger,Faye Vicente,Joel Charrow,Shannon Haymond,David C Lin

Journal of Mass Spectrometry and Advances in the Clinical Lab（2022）

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摘要

•Branched chain amino acid (BCAA) testing is crucial in the diagnosis and monitoring of maple syrup urine disease (MSUD).•Mixed mode chromatography can be applied to separate BCAAs without requiring sample derivatization.•A rapid, clinically validated LC-MS/MS-based assay for analysis of underivatized BCAA in human plasma was developed.•The assay involves minimal sample preparation without derivatization, rapid chromatographic separation, and requires only 20 µL of sample.

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关键词

3NPH,ACN,AMR,BCAA,BCKD,CAP,CLIA,CLSI,CN,CRR,ESI,FA,GC–MS,HMDB,HILIC,IEX,LC,LC-MS/MS,LC-UV,LDT,LLE,LOD,LOQ,MeOH,MSUD,NMR,PBS-BSA,PITC,PTFE,QC,RP,RPLC,S/N,SCX,SPE,SRM,UHPLC,WAX

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