Congenital disorders of glycosylation (CDG) are a large group of rare genetic disorders that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. The addition of glycans to proteins is critical to the healthy function of cells. People with CDG have a wide range of health problems because of this chemical malfunction. There are more than 130 different forms of CDG with different genetic causes, each presenting a unique set of health problems, which can vary from mild to severe. In this lecture Dr. Edmondson, Director of the CHOP CDG Clinic, provides clear guidance on the clinical presentations of CDG and indications on when it should be considered for patients with an unexplained syndrome. He also describes the importance of advanced metabolic and diagnostic testing in diagnosing CDG.
- Review the signs and symptoms of Congenital disorders of glycosylation (CDG)
- Discuss guidelines and indications on when it should be considered for patients with an unexplained syndrome
- Describe the importance of advanced metabolic and diagnostic testing in diagnosing CDG
This seminar focuses on human genetics and was delivered at a virtual event titled, “Congenital Disorders of Glycosylation,” on October 21, 2021.
Additional CHOP Resources:
- Congenital Disorders of Glycosylation (CDG) Clinic
- N-Glycan Testing for Congenital Disorders of Glycosylation
- Division of Human Genetics
- Upcoming Healthcare Professionals Events
- Consensus Guidelines – PMM2-CDG
- Consensus Guidelines – PGM1-CDG
- Consensus Guidelines – MPI-CDG
- RDCRN FCDGC Clinical Research Website
- US CDG Patient Advocacy Group
- World CDG Patient Advocacy Group
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