Use of tandem mass spectrometry for the newborn screening of inborn errors of metabolism

作者：Campos Hernandez Derbis

来源：Acta Bioquimica Clinica Latinoamericana, 2012, 46(2): 195-203.

• tandem mass spectrometry
• newborn screening
• inborn errors of metabolism
• acylcarnitines
• amino acids

The use of tandem mass spectrometry in the diagnosis of inborn errors of metabolism has the potential to expand newborn screening programmes to include many different diseases. This technique can quickly detect, with great specificity and sensibility, more than 30 diseases using the same punch of dried blood in filter paper through the combined analysis of acylcarnitines and amino acid mass spectra profile. The detection of a particular disease this way could be made without the need of a chromatographic system. The analytical analyses in current use by different screening laboratories are very similar.

• 出版日期2012-6