Congenital disorders of glycosylation - new considerations in the approach to the multisystem affected child

Abstract

Introduction: Congenital Disorders of Glycosylation (CDG) represent a group of genetic pathologies determined by enzyme defects that compromise the biosynthesis of glycoproteins and glycoconjugates. Due to scientific progress, CDG is enjoying exponential growth, so that currently 200 types are reported, affecting multiple glycosylation pathways. Their number will increase in parallel with the knowledge of the glycosylation pathway, improved diagnosis, and increased awareness of these conditions among the medical and scientific communities [1]. Most types of CDG are extremely rare, their prevalence being between 0.1-0.5/100,000 population, 70% corresponding to type CDG Ia (PMM2-CDG), with a frequency of 1:20,000 births. Glycosylation is an essential process in the functioning of all cells of the human body due to the fact that approximately half of our body's proteins are glycosylated [2]. Thus, the compromise of this essential process for the development of all systems will cause clinical heterogeneity and multisystem involvement, which reflect the complexity of CDG identification.