Type II CDG

Type II Congenital Disorders of Glycosylation (CDG) are rare genetic conditions where the body's ability to properly modify and process certain proteins is disrupted. This leads to abnormal sugar attachments on these proteins, affecting their function. Unlike Type I CDG, which involves errors in the initial protein processing, Type II specifically impacts the later stages of modifying these proteins within the cell's Golgi apparatus. Symptoms can vary widely but may include neurological problems, developmental delays, abnormal muscle tone, and issues with the immune or liver systems. Diagnosis is based on specialized blood tests, and management focuses on addressing symptoms and improving quality of life.