Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry

Rapid Commun Mass Spectrom. 2003;17(23):2688-92. doi: 10.1002/rcm.1248.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Calibration
  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Chromatography, High Pressure Liquid
  • DNA / chemistry
  • DNA / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mass Spectrometry
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / enzymology
  • Neonatal Screening
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • acylcarnitine
  • DNA
  • Acyl-CoA Dehydrogenase
  • Carnitine