Living with Congenital bile acid synthesis defect 3
A severe inherited liver condition in newborns where bile acids are not made properly, causing jaundice and liver disease.
Understanding Congenital bile acid synthesis defect 3
Newborns have a severe liver disease in which bile flow is slowed or blocked (cholestasis). It begins in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slowed or blocked bile flow (cholestasis)
- Yellow skin and eyes (jaundice)
- Enlarged liver and spleen
- Trouble absorbing fat
- Liver scarring (cirrhosis)
- Liver failure
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYP7B1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CYP7B1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: basd3; bile acid synthesis defect, congenital, type 3; cbas3; congenital bile acid synthesis defect caused by mutation in cyp7b1; congenital bile acid synthesis defect type 3; cyp7b1 congenital bile acid synthesis defect
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital bile acid synthesis defect 3.
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