CDG | Rare Diseases Clinical Research Network

Video abstract with graphic showing the process of O-glycosylation

Researchers Identify New Congenital Disorder of Glycosylation, GALNT2-CDG

May 26, 2020

Seven patients now have a name for their specific congenital disorder of glycosylation (CDG)—a new type called GALNT2-CDG. Researchers from Frontiers in Congenital Disorders of Glycosylation (FCDGC) describe the new disorder, caused by mutations in the GALNT2 gene, in the journal Brain.

Congenital disorders of glycosylation

CDG

FCDGC

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The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). The RDCRN websites are hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.