title: Potential of capillary electrophoresis, tandem mass spectrometry and coupled capillary electrophoresis-tandem mass spectrometry as diagnostic tools.
abstract: Urine and blood samples from patients with known metabolic disorders have been analyzed by CE, MS-MS and CE-MS-MS. For the identification of defects in acylcarnitine metabolism, blood spots on filter paper were analyzed using an MS-MS "neonatal screening" approach. Direct CE-MS-MS analysis was used for the analysis of urine samples from patients with different metabolic disorders, including galactosemia, neuroblastoma, Zellweger syndrome, propionic acidemia and alcaptonuria. The sensitivity of the CE-MS-MS method was increased by use of multiple reaction monitoring.
authors.affiliation: Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway. k.b.p.elgstoen@labmed.uio.no
authors.forename: K B
authors.initials: KB
authors.lastname: Elgstoen
authors.forename: J Y
authors.initials: JY
authors.lastname: Zhao
authors.forename: J F
authors.initials: JF
authors.lastname: Anacleto
authors.forename: E
authors.initials: E
authors.lastname: Jellum
mesh_terms: D019075:Electrophoresis, Capillary / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D015997:Neonatal Screening / Q000379:methods*; D015203:Reproducibility of Results