Type I CDG

Type I Congenital Disorders of Glycosylation (CDG) are genetic conditions affecting how the body builds and processes certain sugar chains called glycans, which are attached to proteins. In Type I CDG, there is a defect in the initial steps of assembling these glycans in the cell’s factory, the endoplasmic reticulum. This leads to improperly formed glycoproteins, which are essential for normal cell function. As a result, individuals may experience a range of symptoms involving multiple organs, such as developmental delays, muscle weakness, immune problems, and abnormal fat distribution. Early diagnosis and management can help improve quality of life.