Living with B4GALT1-congenital disorder of glycosylation
A very rare inherited condition that affects the brain, muscles, and blood clotting, seen from birth.
Understanding B4GALT1-congenital disorder of glycosylation
It includes a large head from a brain difference called Dandy-Walker malformation, extra fluid in the brain (hydrocephalus), low muscle tone, muscle disease, and blood clotting problems. Onset is listed as the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy
- Blood clotting differences
- Nearsightedness (myopia)
- Wide nasal bridge and low-set ears
- Slow clotting time (prolonged PTT)
- Low levels of clotting proteins
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 and genetic specialists.
- 3Consider genetic testing
Changes in B4GALT1 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); 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
It is caused by changes in the B4GALT1 gene, which lead to a missing enzyme. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: b4galt1-cdg; b4galt1-cdg - beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation; b4galt1-cdg (cdg-iid); beta-1,4-galactosyltransferase deficiency; carbohydrate deficient glycoprotein syndrome type 2d; carbohydrate deficient glycoprotein syndrome type iid
Patient organizations
- CDG CAREB4GALT1-congenital disorder of glycosylation · United States
- Dandy-Walker Alliance, Inc.B4GALT1-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with B4GALT1-congenital disorder of glycosylation.
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