Carbohydrate Deficient Glycoprotein Syndrome (CDGS), also known as Congenital Disorders of Glycosylation, is a group of rare genetic disorders characterized by impaired or defective carbohydrate processing and attachment to proteins. It is caused by mutations in specific genes that are involved in the glycosylation pathway, which is responsible for adding carbohydrates (sugar molecules) to proteins to form glycoproteins.
In CDGS, the body is unable to attach the appropriate sugar molecules to proteins, leading to abnormal glycoprotein formation. This deficiency in carbohydrate attachment affects multiple organ systems and can result in a wide range of symptoms, including developmental delays, intellectual disabilities, growth retardation, abnormal facial features, failure to thrive, liver dysfunction, and abnormal blood clotting.
The severity and specific manifestations of CDGS vary depending on the specific gene mutation and the affected organ systems. Different subtypes of CDGS have been identified based on the specific gene involved and the distinct clinical features observed in affected individuals.
Diagnosis of CDGS involves a combination of clinical evaluation and specialized laboratory tests, such as glycosylation analysis and genetic testing. Although there is currently no cure for CDGS, treatment primarily focuses on managing the associated symptoms and improving the quality of life for affected individuals. This may involve specific dietary modifications, physical and occupational therapies, and supportive care tailored to the individual's needs. Research efforts are ongoing to better understand CDGS and develop potential treatments for this rare disorder.
