Carbohydrate deficient glycoprotein syndrome

Carbohydrate-Deficient Glycoprotein Syndrome (CDG Syndrome) is a group of genetic disorders that affect the body's ability to make glycoproteins. Glycoproteins are proteins that have carbohydrates attached to them and are essential for the normal functioning of all cells in the body. CDG Syndrome is characterized by a deficiency in the production of these glycoproteins, leading to a wide range of symptoms and health problems.

Types of CDG Syndrome

There are several types of CDG Syndrome, each caused by a different genetic mutation. The most common type is CDG-Ia, also known as PMM2-CDG. Other types include CDG-Ib, CDG-Ic, and CDG-Id, among others. Each type is associated with a specific set of symptoms and health problems.

Symptoms

The symptoms of CDG Syndrome can vary widely, depending on the specific type of the disorder. Common symptoms include developmental delay, intellectual disability, seizures, and problems with movement and balance. Some people with CDG Syndrome may also have organomegaly, coagulopathy, and other health problems.

Diagnosis

CDG Syndrome is typically diagnosed through genetic testing, which can identify the specific genetic mutation causing the disorder. Other diagnostic tests may include blood tests, urine tests, and imaging studies to assess the extent of the disorder and the specific health problems it is causing.

Treatment

There is currently no cure for CDG Syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy to help with movement and communication problems. Medications may also be used to manage seizures and other health problems.

Prognosis

The prognosis for people with CDG Syndrome can vary widely, depending on the specific type of the disorder and the severity of symptoms. Some people with CDG Syndrome may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See Also

• Congenital disorder of glycosylation
• Glycoprotein
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Carbohydrate deficient glycoprotein syndrome

Carbohydrate deficient glycoprotein syndrome is a rare disease.

Carbohydrate deficient glycoprotein syndrome Resources
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