congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) are a group of rare genetic conditions that affect how sugars are attached to proteins in the body. Glycosylation is crucial for the proper functioning of proteins, influencing their stability, structure, and ability to communicate with cells. When this process goes awry due to genetic mutations, it can lead to various health issues, including problems with the nervous system, immune function, and growth. Symptoms can vary widely and may include cognitive difficulties, developmental delays, and organ dysfunction. Early diagnosis and management are essential for improving quality of life.