Living with Congenital bile acid synthesis defect 2
A rare inherited liver condition in which the body cannot make bile acids, causing jaundice, poor growth and fatty stools.
Understanding Congenital bile acid synthesis defect 2
Bile helps the body absorb fats and fat-soluble vitamins. Signs often develop in infancy. Infants usually grow poorly and have jaundice and fatty stools. Over time, liver inflammation or chronic liver disease can develop. Some people have softened bones (rickets) or clotting problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jaundice, including long-lasting in newborns
- Slow weight gain and growth
- Fatty stools (steatorrhea)
- Enlarged liver
- Dark urine
- Blood clotting 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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in AKR1D1 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 AKR1D1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: akr1d1 congenital bile acid synthesis defect; basd2; bile acid synthesis defect, congenital, type 2; cbas2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; congenital bile acid synthesis defect caused by mutation in akr1d1
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 2.
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