Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction

•Congenital disorders underline the role of glycosylation in human development.•Next-generation sequencing techniques expanded the discovery of glycosylation gene defects.•The clinical variability of glycosylation disorders implies that they are underdiagnosed.

Glycosylation is a ubiquitous modification of lipids and proteins. Despite the essential contribution of glycoconjugates to the viability of all living organisms, diseases of glycosylation in humans have only been identified over the past few decades. The recent development of next-generation DNA sequencing techniques has accelerated the pace of discovery of novel glycosylation defects. The description of multiple mutations across glycosylation pathways not only revealed tremendous diversity in functional impairments, but also pointed to phenotypic similarities, emphasizing the interconnected flow of substrates underlying glycan assembly. The current list of 100 known glycosylation disorders provides an overview of the significance of glycosylation in human development and physiology.