Congenital disorders of glycosylation (CDG) represent a group of rare diseases with multisystem involvement and exponential expansion, characterized by defects in the glycosylation process, which is essential for the proper functioning of proteins and lipids. These often manifest under the guise of other pathologies. The objective of the study was to diagnose CDG using Isoelectric Focusing of Transferrin (IEFT) in the Republic of Moldova and to identify diseases that mimic CDG.