Potential of capillary electrophoresis, tandem mass spectrometry and coupled capillary electrophoresis-tandem mass spectrometry as diagnostic tools

K B Elgstoen; J Y Zhao; J F Anacleto; E Jellum

doi:10.1016/s0021-9673(00)01117-1

Potential of capillary electrophoresis, tandem mass spectrometry and coupled capillary electrophoresis-tandem mass spectrometry as diagnostic tools

J Chromatogr A. 2001 Apr 20;914(1-2):265-75. doi: 10.1016/s0021-9673(00)01117-1.

Authors

K B Elgstoen¹, J Y Zhao, J F Anacleto, E Jellum

Affiliation

¹ Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway. k.b.p.elgstoen@labmed.uio.no

PMID: 11358221
DOI: 10.1016/s0021-9673(00)01117-1

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.

MeSH terms

Electrophoresis, Capillary / methods*
Humans
Infant, Newborn
Mass Spectrometry / methods*
Metabolism, Inborn Errors / blood
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / urine
Neonatal Screening / methods*
Reproducibility of Results