Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation

Electrospray ionization (ESI) mass spectrometry of transferrin can be used to diagnose congenital disorders of glycosylation (CDG) by detecting abnormal N-glycosylation due to reduced site occupancy or processing failure. […]  In this study, the low m/z region of the multiply-charged ion mass spectrum enabled a robust analysis of CDG. A triple quadrupole mass spectrometer, the standard instrument for newborn screening for inborn errors of metabolism, permitted the identification of the key ions characteristic of different types of CDG affecting PMM2,  ALG14,  SLC35A1,  SLC35A2,  MAN1B1 and  PGM1 in the m/z 1,970-2,000 region. […] This method and workflow facilitates the implementation of MS-based analyses and the screening of CDG in clinical laboratories.