Congenital Disorders of Glycosylation

The Congenital Disorders of Glycosylation (CDG) are a group of genetic disorders that have a broad spectrum of symptoms and range from mild to life-threatening in severity. This group is expanding at a rapid pace, and more than 60 different forms of CDG have been reported. Information about the disorders is always changing due to the developments in knowledge and new forms being reported.

The CDG are caused by problems in one of the body’s natural processes called Glycosylation. This process uses hundreds of different enzymes to allow sugar molecules in the body to attach to certain proteins or lipids (fats). When this happens, they are given the names glycoproteins and glycolipids, respectively. Both are needed to carry out different tasks and are essential for the normal growth and function of the tissues and organs within the body. There are at least 100 steps, all using different enzymes, in the process of glycosylation. If one of the enzymes in the process does not function correctly it can cause a variety of symptoms, affecting many different parts of the body.

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