Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

Eur J Pediatr. 2003 Dec:162 Suppl 1:S67-76. doi: 10.1007/s00431-003-1356-y. Epub 2003 Nov 14.


Gas chromatography/mass spectrometry became available more than 30 years ago and has subsequently profoundly contributed not only in the identification of a wide range of inborn errors but also as a key tool for clinical diagnostic screening of genetic metabolic disease. Due to extraordinary advances in liquid chromatography and mass spectrometry (MS) developed in the last decade, the utilisation of MS and the potential number of applications for the purpose of metabolic screening is currently undergoing considerable expansion.

Conclusions: This overview aims to describe only current new developments in clinically most relevant applications, in particular with focus on low molecular weight compounds.

Publication types

  • Review

MeSH terms

  • Humans
  • Infant, Newborn
  • Mass Spectrometry / trends*
  • Metabolism, Inborn Errors* / classification
  • Metabolism, Inborn Errors* / diagnosis
  • Metabolism, Inborn Errors* / genetics