CDG syndrome

CDG Syndrome (Congenital Disorders of Glycosylation) is a group of genetic disorders caused by defects in the process of glycosylation, the attachment of sugars to proteins. The term "CDG Syndrome" is used to describe a wide variety of different conditions, each of which may have different symptoms and require different treatments.

Overview

Glycosylation is a critical function of cells, and it is involved in many different processes within the body. When this process is disrupted, it can lead to a wide range of health problems. The symptoms of CDG Syndrome can vary widely from person to person, but they often include developmental delay, intellectual disability, and problems with the liver, heart, and nervous system.

Types of CDG Syndrome

There are many different types of CDG Syndrome, each caused by a mutation in a different gene. These include CDG-Ia, CDG-Ib, CDG-Ic, and many others. Each type of CDG Syndrome has its own specific symptoms and treatment options.

Symptoms

The symptoms of CDG Syndrome can vary widely, depending on the specific type of CDG Syndrome a person has. However, common symptoms often include developmental delay, intellectual disability, and problems with the liver, heart, and nervous system. Some people with CDG Syndrome may also have abnormal fat distribution, a distinctive facial appearance, and other physical abnormalities.

Diagnosis

Diagnosis of CDG Syndrome typically involves genetic testing to identify the specific mutation causing the disorder. This can often be done using a blood sample. In some cases, other tests may also be needed to confirm the diagnosis and determine the specific type of CDG Syndrome.

Treatment

Treatment for CDG Syndrome depends on the specific type of CDG Syndrome a person has, as well as the severity of their symptoms. Treatment options may include dietary changes, medications, physical therapy, and other interventions.

See Also

• Genetic disorders
• Glycosylation
• CDG-Ia
• CDG-Ib
• CDG-Ic

NIH genetic and rare disease info

• NIH info on CDG syndrome

CDG syndrome is a rare disease.

CDG syndrome Resources
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