CDGsyndroomat
CDGsyndroomat, also known as Congenital Disorders of Glycosylation, represents a group of rare genetic disorders that affect the process of glycosylation. Glycosylation is a crucial post-translational modification where carbohydrate chains, or glycans, are attached to proteins and lipids. This process is essential for a wide range of cellular functions, including protein folding, stability, trafficking, and cell-cell recognition. In individuals with CDGsyndroomat, defects in the genes responsible for synthesizing or attaching these glycans lead to abnormal glycosylation patterns.
The clinical presentation of CDGsyndroomat is highly variable, ranging from mild to severe and affecting multiple