Congenital disorders of glycosylation type IA

Abstract

Congenital disorders of glycosylation (CDG) are genetic defects in the synthesis or attachment of the glycan moiety of glucoconjugates, particularly glycoproteins and glycolipids. With few exceptions, they are mostly severe multisystem diseases. The nervous system is mostly affected. During the last years, CDG show a large and steadily growing number of clinical presentations. The present review aims at further deepening the knowledge of Bulgarian medical specialists for the most common type of glycosylation disorders, CDG type Ia, in the context of the possibility to detect the disease in Bulgaria with the newly introduced screening method - isoelectrofocusing of serum transferrin.