Chemical Diagnosis of Inborn Errors of Metabolism
Zhao Jiyuan, Wang Yiming, LuoGuoan Institute of Life Science and Engineering, Tsinghua University, Beijing, 100084. China
Inborn errors of metabolism (IEM) and their pathology are introduced. It is demonstrated that delayed diagnosis would do harm to neonate. Early diagnosis of IEM is a challenging and undeveloped area in China. In this review, we compare some recently used chemical diagnosis methods: gas chromatography-mass spectrometry, tandem mass spectrometry, capillary electropheresis, HPLC. NMR and IR. Their advantages and disadvantages are also discussed.