What is CDG Disease?

CDG Disease also known as Congenital Disorders of Glycosylation is a rare genetic disorder that affects a person’s ability to make use glycoproteins. Glycoproteins are essential molecules found on the surface of cells that are involved in several critical bodily functions including blood clotting immune function hormone production.

Causes of CDG Disease

CDG Disease is caused by genetic mutations in the genes responsible for producing the complex sugars that make up glycoproteins. These mutations can occur in any of the over 100 genes involved in glycosylation. The inheritance pattern of CDG Disease is usually autosomal recessive meaning a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of CDG Disease

The symptoms of CDG Disease vary widely can affect different parts of the body. Some babies may show signs shortly after birth while others may develop symptoms later in childhood. The most common symptoms of CDG Disease include:

• Developmental delay
• Intellectual disability
• Issues with movement coordination
• Epilepsy or seizures
• Failure to thrive
• Abnormal liver function
• Eye abnormalities
• Increased susceptibility to infection

Treatment for CDG Disease

Unfortunately there is currently no cure for CDG Disease. Treatment is focused on managing the symptoms providing supportive care such as physical therapy occupational therapy. Some people may require additional interventions such as feeding tubes hearing aids or medication to control seizures.

Conclusion

CDG Disease is a rare genetic disorder that affects a person’s ability to make use glycoproteins which are essential molecules involved in several bodily functions. The symptoms of CDG Disease can vary widely there is currently no cure. Treatment options are focused on managing symptoms providing supportive care. If you suspect that you or your child may have CDG Disease speak with a healthcare professional to discuss testing treatment options.