Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

J Mass Spectrom. 2006 Feb;41(2):263-5. doi: 10.1002/jms.964.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Artifacts
  • Carnitine / analysis*
  • Carnitine / blood*
  • Consanguinity
  • False Positive Reactions
  • Female
  • Glutamate Formimidoyltransferase / deficiency*
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / enzymology
  • Neonatal Screening*
  • Spectrometry, Mass, Electrospray Ionization

Substances

  • Glutamate Formimidoyltransferase
  • Carnitine