Living with Congenital disorder of glycosylation
A group of inherited metabolic conditions in which the body cannot attach sugar chains to proteins, with a wide range of symptoms.
Understanding Congenital disorder of glycosylation
People with a CDG are missing one of the enzymes needed for this process, and the type depends on which one. There are 19 identified types, and type IA is the most common. Symptoms vary widely. Some people have severe developmental delay, slow growth and several organ problems. Others have diarrhea, low blood sugar and liver problems, with normal developmental potential.
Signs & symptoms
Symptoms vary widely. GARD's summary says they can include:
- Developmental delay
- Slow weight gain (failure to thrive)
- Problems in several organs
- Diarrhea
- Low blood sugar (hypoglycemia)
- Liver problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Each type is caused by a missing enzyme in the glycosylation process. GARD lists autosomal recessive and X-linked inheritance.
Also known as: carbohydrate deficiency glycoprotein syndrome; carbohydrate deficient glycoprotein syndrome; carbohydrate-deficient glycoprotein syndrome; cdg; cdg - carbohydrate-deficient glycoprotein syndrome; congenital disorders of glycosylation
Patient organizations
- CDG CARECongenital disorder of glycosylation · United States
- Amour FundCongenital disorder of glycosylation · United States
- CDG & Allies - PPAINCongenital disorder of glycosylation
You are more than your diagnosis
Perspectives from people navigating life with Congenital disorder of glycosylation.
Explore research for Congenital disorder of glycosylation
Explore actively recruiting Congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for Congenital disorder of glycosylation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital disorder of glycosylation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital disorder of glycosylation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital disorder of glycosylation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.