Chem. J. Chinese Universities ›› 2003, Vol. 24 ›› Issue (8): 1368.

• Articles • Previous Articles     Next Articles

Studies on GC/MS and ESI/MS/MS Screening of MMAUria with Stable Isotope Labeling Method

ZHAO Ji-Yuan1, WANG Yi-Ming1, LUO Guo-An1, ZHANG Ting2, WU Jian-Xin2, WANG Li-Wen2   

  1. 1. Institute of Life Science and Engineering, Tsinghua University, Beijing 100084, China;
    2. CapitaLInstitute of Pediatrics, Beijng 100020, China
  • Received:2002-11-11 Online:2003-08-24 Published:2003-08-24

Abstract: Early diagnosis of inborn errors of metabolism(IEM) is a challenging and undeveloped area in China.As one of the diseases with most frequency, methylmalonic aciduria(MMAUria) is studied by using GC/MSand ESI/MS/MSmethod.Information of almost all urinary metabolites can be obtained by GC/MSusing urease pretreatment and stable isotpe labeling.We also develop a way to analyze a urine sample in 2 minutes by ESI/MS/MS.Both the two methods have a good recovery.The combination of the two methods can not only be used for high-risk screening, but also for newborn screening.

Key words: GC/MS, ESI/MS/MS, MMAUria, Methylmalonic acid, Methylcitric acid

CLC Number: 

TrendMD: