Simultaneous Transferrin and Apolipoprotein CIII Glycoforms Analysis by Online Immuno - Affinity Chromatography Electrospray Ionization Mass Spectrometry

摘要

Congenital disorders of glycosylation (CDG) are an expanding group of inborn errors of metabolism with severe clinical implications for patients of all ages. The analysis of glycosylation of serum transferrin (Tf), an exclusively N- glycosylated protein, allows for the differentiation of two main abnormal patterns, namely CDG type I and type II. CDG I are disorders in the synthesis of the N-glycan, whereas CDG II are disorders of trimming and processing of the sugar chain. The addition of apolipoprotein CIII (Apo CIII), an exclusively O- glycosylated protein, to the Tf analysis serves to improve the diagnostic sensitivity and specificity for CDG testing.