May 16th is recognized as World Congenital Disorders of Glycosylation (CDG) Day. First launched in 2016 by the Portuguese Association for CDG with support from a variety of CDG patient groups from around the world, the event aims to share the stories of what it means to with one of these disorders, advocate for equal opportunity for patients, and spread awareness.
About Congenital Disorders of Glycosylation
Congenital disorders of glycosylation (CDG) are a group of genetic metabolic disorders which can sometimes cause severe and lethal dysfunction of a variety of body systems and organs, such as the intestines, nervous system, and muscles. These disorders are quite rare and are not well known. While there are a wide variety of different disorders that fall under CDG, they can be classified into type I (which affects lipid-linked oligosaccharides) and type II (which affects protein-bound oligosaccharides). Though signs and symptoms differ between the different variants, they often include vision problems, ataxia, low muscle tone, peripheral neuropathy, failure to thrive, reduced brain volume, certain structural deformities, liver disease, and seizures. There is a dire need for disease-modifying treatments for CDG, as most forms do not have any available treatment. The severity of symptoms can vary widely. To learn more about these disorders, click here.
World CDG Awareness Day
May 16th was chosen as the day for the event because this was the date that Pf. Jaak Jaeken, who described the first patients living with these disorders in 1980, was born. The first patients were a pair of twins that displayed major psychomotor disability. Jaeken was also responsible for developing the process of transferrin isoelectrofocusing in order to screen for the disorders.
The ultimate goal of the World CDG Day consists of three objectives:
- Provide a platform for boosting awareness, advocacy, and visibility.
- Promote and synergize research related to the disorders.
- Further worldwide efforts to coordinate and confront the diseases as a health issue with global scope.
The World CDG Organization is coordinating a wide variety of methods for people to get involved with World CDG Day using the hashtag #StandUnited4CDG. Click here to learn more.
