ABSTRACT
Glycome is defined as a huge gamut of glycan structures wherein the constituent monosaccharide residues are assembled to form glycans through the process of glycosylation-an enzyme-directed and a highly regulated process. More importantly, the structure and function of a particular glycosylated protein are described by both its glycan as well as its polypeptide part. Various genetic diseases have been identified in the past decade that predominantly alter glycan synthesis and their structure, which in turn has been shown to affect the functioning of almost all organ systems. Among these, congenital disorders of glycosylation (CDG) are an increasing class of multi-systemic diseases/disorders, with severe clinical implications. In addition to this, non-congenital disorders arise due to defects in glycogen synthesis or its breakdown that, in turn, lead to the development of glycogen storage diseases (GSDs). Most of these disorders occur due to improper functioning/defects in metabolic enzymes. This chapter will provide an update about the major advances in these glycan disorders and also highlight the future directions in this regard.
