Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDG) are a rapidly growing family of genetic diseases with more than 50 members identified at the molecular and biochemical level since the first clinical description in 1980.

They are due to defects in the synthesis of glycans (sugars) in their attachment to proteins and lipids.

CDG presents 20% lethality in the first days of life and a heterogeneous clinical presentation at various ages.

CDG is still a mystery of medicine!

Only one type is treatable. Enhancing and supporting research to foster cures is urgent!