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A knowledge base
for the global
CDG community

CDG Hub is a knowledge base that is designed to educate researchers, clinicians, patients and families on congenital disorders of glycosylation.

CDG Hub is a nexus for curated information on more than 170+ CDG types, clinical trials, research models and resources, including a database of CDG medical experts and researchers worldwide. CDG Hub aims to unite the global CDG community, increase public awareness, and inspire collaborative research to advance scientific discoveries.

Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation (CDG) are a large group of rare, inherited disorders that are caused by defects in glycosylation.

Glycosylation is the process of assembling and adding sugar chains, called glycans, to proteins and lipids. When someone has CDG, their body cannot properly create or add glycans to proteins and lipids.

As every part of the body needs glycosylation to work properly, people with CDG have many health problems which often affect multiple body systems. There is no cure for CDG, but treatments are available to manage symptoms and many therapies are currently in development.

170+

There are 170+ different types of CDG and new types are discovered each year.

400+

Over 400 genes in the human genome are involved in glycosylation and mutations in more than 170 of them are known to cause CDG.

Families

Learn everything you need to know about CDG. Discover educational resources developed specifically for families, important medical terms to know, FAQs, and connect with other CDG families near you!

Clinicians

Are you a healthcare professional interested in learning about CDG? Discover educational resources for clinicians and patients, CDG medical experts and centres around the world and upcoming clinical trials.

Researchers

Our understanding of CDG continues to evolve as researchers around the world study what causes the disease and how it affects the body. Discover researchers who are working to better understand CDG, improve diagnosis and develop new treatments or cures. Be inspired to launch collaborative research projects to accelerate scientific discoveries on CDG!

Join CDG Connect PIN: a worldwide CDG patient registry

Help advance progress towards improved diagnosis, treatments and cures for CDG by joining a global patient registry.

Publications

November 1, 2025

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female

Raynor A, et al. J Inherit Metab Dis., November 1, 2025

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October 28, 2025

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review

Martzolff L, et al. Mol Genet Metab., October 28, 2025

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October 24, 2025

AAV9-mediated NGLY1 gene replacement suppresses non-epileptic convulsions in Ngly1-/- rats

sahina M, Fujinawa R, Hirayama H, Yukitake H, Suzuki T. Biochem Biophys Res Commun., October 24, 2025

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October 24, 2025

Clinical utility of untargeted urine oligosaccharide screening.

Pino GB, et al. Mol Genet Metab., October 24, 2025

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October 23, 2025

Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome

Grombirikova H, et al. J Immunol Res., October 23, 2025

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October 17, 2025

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome

Uçaktürk SA, Özer E, Ceylan AC, Mengen E. J Pediatr Endocrinol Metab., October 17, 2025

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October 17, 2025

Protein glycosylation and synaptic transmission: brain glycogen keeps them separated

Trentini G, Cazzanelli G, Lolli G. Brain., October 17, 2025

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