Abstract:

For the clinical diagnosis of inborn error of metabolism, the technique of mass spectrometry is considered to be an important tool. Gas chromatography/mass spectrometry can be used in the screening and diagnosis of more than 130 inborn errors of metabolism. Tandem mass spectrometery can screen about 30 fatty acid disorders and amino acid disorders, so it is applied into neonatal screening around the world. The number of laboratories using mass spectrometry for the diagnosis of inborn error of metabolism is increasing, but the organization of mass spectrometry analysis is very difficult. Internationalization management is the precondition for the quality control of inborn error of metabolism determination in clinic. The on-line mass spectrometry network system can overcome difficult procedure and keep high quality for laboratory management.

Key words: Mass spectrometry, Inborn error of metabolism, Gas chromatography/mass spectrometry, Tandem mass spectrometry