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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.

Events

April 14, 2024

Society for Inherited Metabolic Disorders 2024 Meeting

April 14, 2024 / Charlotte, NC, United States

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May 16, 2024

World CDG Awareness Day 2024

May 16, 2024

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September 3, 2024

SSIEM Annual Symposium 2024

September 3, 2024 / Porto, Portugal

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November 10, 2024

Society for Glycobiology Annual Meeting 2024

November 10, 2024 / Amelia Island, FL, United States

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Publications

April 8, 2024

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

Garapati K et al. JC Insight., April 8, 2024

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April 3, 2024

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Authier F, Ondruskova N, Ferenbach AT, McNeilly A, van Aalten DMF. Dis Model Mech, April 3, 2024

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March 28, 2024

ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity

Fujihira H, Sato K, Nishiuchi Y, Murase T, Matsuda Y, Yoshida Y, Kamei T, Suzuki T. Biochem Biophys Res Commun., March 28, 2024

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March 28, 2024

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Corona-Rivera JR et al. Mol Genet Metab., March 28, 2024

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March 27, 2024

Phosphomannomutase 2-congenital disorder of glycosylation presenting with very early onset inflammatory bowel disease

Comert M, Guler T, Ergani AC, Gumus M, Ozdemir EM, Artac H. Indian J Gastroenterol. , March 27, 2024

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March 25, 2024

Promise of gene therapy for congenital neurologic disease due to GPI deficiency

Babushok DV, Sabatino DE. Mol Ther Methods Clin Dev., March 25, 2024

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March 22, 2024

Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay

Wang YC, Niu DM, Chen LZ, Chen YR, Yang CF. Mol Genet Metab Rep., March 22, 2024

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March 16, 2024

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center

Yüksel MF, Doğulu N, Yıldırım M, Köse E, Bektaş Ö, Eminoğlu FT, Teber S. Brain Dev., March 16, 2024

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