Congenital Disorders of Glycosylation
摘要
Congenital defects affecting the synthesis or processing of sugar chains on glycoproteins mostly lead to severe multisystemic diseases called “Congenital Disorders of Glycosylation” (CDG). CDG belong to the group of rare diseases, but the assumption is that CDG are highly underdiagnosed. Here, we present standard methods for the diagnosis of N-glycosylation defects (CDG-I and CDG-II). Among others, we describe the procedures of isoelectric focusing and of mass spectrometric analysis of transferrin as the gold marker in CDG diagnostics.