What is CDG?

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What is Congenital Disorders of Glycosylation (CDG)

CDG is a rare inherited condition that affects many parts of the body. The type and severity of problems associated with CDG vary widely among affected individuals, sometimes even among members of the same family. There are only about 1000 individuals affected by CDG.

The most common form of CDG is caused by mutations in the PMM2 protein that reduce its activity. As a result, many proteins do not have the correct sugar molecules attached and cannot function properly. Because the process of glycosylation occurs in virtually all cells throughout the body, mutations in PMM2 or other glycosylation proteins have devastating consequences for many proteins in many organs.
Individuals with PMM2-CDG typically develop signs and symptoms of the condition during infancy. Among many symptoms affecting infants may be weak muscle tone (hypotonia), developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive). Infants with PMM2-CDG also frequently have an underdeveloped cerebellum, which is the part of the brain that coordinates movement. Children with PMM2-CDG may also have elevated liver function test results, seizures, fluid around the heart (pericardial effusion), and blood clotting disorders.

PMM2-CDG Video:

 

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