Living with ALG8 congenital disorder of glycosylation
A rare inherited condition with digestive problems, fluid buildup, liver and kidney effects, and nervous system symptoms.
Understanding ALG8 congenital disorder of glycosylation
It involves digestive symptoms (diarrhea, vomiting, feeding problems, and loss of protein through the intestine), fluid buildup, an enlarged liver, kidney tube problems, and clotting problems from low platelets. It also affects the brain, with delayed development, seizures, and balance problems. Cataracts and low muscle tone may occur. It starts during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Diarrhea and vomiting
- Trouble feeding and poor weight gain
- Fluid buildup in the belly (ascites)
- Blood clotting problems
- Cloudy lens of the eye (cataract)
- Seizures and developmental delay
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 brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ALG8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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
Changes in the ALG8 gene cause this condition, in a way that stops the gene from working (loss of function). A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alg8-cdg; alg8-cdg - asparagine-linked glycosylation 8 congenital disorder of glycosylation; alg8-cdg (cdg-ih); alg8-congenital disorder of glycosylation; asparagine-linked glycosylation 8 congenital disorder of glycosylation; carbohydrate deficient glycoprotein syndrome type ih
Patient organizations
- CDG CAREALG8 congenital disorder of glycosylation · United States
- CDG & Allies - PPAINALG8 congenital disorder of glycosylation · National Kidney Foundation
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with ALG8 congenital disorder of glycosylation.
Explore research for ALG8 congenital disorder of glycosylation
Explore actively recruiting ALG8 congenital disorder of glycosylation studies with HealthSpark.
Find actively recruiting studies for ALG8 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 ALG8 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 ALG8 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 ALG8 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.