Living with ALG2-congenital disorder of glycosylation
A rare inherited condition with eye differences, infant seizures, developmental delay, and blood clotting changes.
Understanding ALG2-congenital disorder of glycosylation
It involves a gap in the iris (iris coloboma), cataract, infantile spasms (a type of seizure), developmental delay, and unusual clotting factors. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gap in the iris (cat eye or iris coloboma)
- Cloudy lens of the eye (cataract)
- Infantile spasms
- Developmental delay
- Blood clotting problems
- Small head size (microcephaly)
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 ALG2 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 and Epilepsy Foundation 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, Epilepsy Foundation
- 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 ALG2 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: alg2-cdg; carbohydrate deficient glycoprotein syndrome type ii; cdg 1i; cdg ii; cdg syndrome type ii; cdg-ii
Patient organizations
- CDG CAREALG2-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with ALG2-congenital disorder of glycosylation.
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