Abstract

Congenital Disorders of Glycosylation (CDG) encompass a rare and complex group of genetic diseases characterized by abnormalities in the fundamental process of glycosylation. There is an abnormal synthesis or attachment of the glycan moiety of glycoproteins and glycolipids. CDG arises from mutations in genes responsible for various steps in glycosylation within the endoplasmic reticulum and Golgi apparatus. These mutations disrupt the synthesis and transfer of sugar moieties, resulting in the production of defective glycoproteins and glycolipids. Common symptoms of the disease include developmental delays, intellectual disabilities, hypotonia, seizures, and organ dysfunction. The array of CDG subtypes stems from the multitude of underlying genetic mutations and disturbed glycosylation processes making the diagnosis and management challenging. Diagnosis of CDG relies on a multifaceted approach. Clinical evaluation, biochemical analysis, and genetic testing are all essential components. The advent of next-generation sequencing has significantly improved our ability to identify the specific gene mutations responsible for individual CDG subtypes. The management of CDG involves primarily symptom alleviation and enhancing the quality of life. A multidisciplinary approach is fundamental, encompassing supportive care, physical and speech therapies, and medications targeting specific complications.