Carbohydrate Deficient Glycoprotein Syndromes (CDG) are a group of genetic disorders characterized by defects in the production and processing of glycoproteins, which are proteins that have attached sugar molecules. CDG syndromes are caused by mutations in genes involved in the biosynthesis of carbohydrates, leading to impairments in glycosylation, the process by which sugar molecules are attached to proteins.
Individuals with CDG syndromes may experience a range of symptoms, including developmental delays, intellectual disabilities, abnormal liver function, gastrointestinal problems, and blood clotting disorders. The severity and specific symptoms vary depending on the particular CDG subtype.
Diagnosis of CDG syndromes is often challenging due to their wide range of clinical presentations and overlapping symptoms with other disorders. It typically involves a combination of clinical examination, laboratory testing, and genetic analysis.
Treatment options for CDG syndromes are currently limited and mainly focus on managing symptoms and complications. This may involve dietary modifications, use of specific medications, and therapies targeted at improving specific symptoms, such as physical and occupational therapy.
Research in the field of CDG syndromes is ongoing, with the aim of understanding the molecular mechanisms underlying these disorders and developing more effective treatments. Genetic counseling is important for affected individuals and their families to understand the inheritance patterns and recurrence risks associated with CDG syndromes.
