Living with Congenital bile acid synthesis defect 1
A rare inherited liver condition in which the body cannot make bile acids, causing jaundice, poor growth and fat malabsorption.
Understanding Congenital bile acid synthesis defect 1
Bile helps the body absorb fats and fat-soluble vitamins (A, D, E and K). Signs often begin in the first weeks of life but can start from infancy to adulthood. Infants may grow poorly and have yellow skin and eyes (jaundice) and fatty stools. Over time, liver problems and softened bones (rickets) can develop.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellow skin and eyes (jaundice)
- Slow weight gain and growth (failure to thrive)
- Fatty stools (steatorrhea)
- Enlarged liver and spleen
- Trouble absorbing fats and vitamins
- Bleeding or 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 HSD3B7 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 HSD3B7 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: 3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency; 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency; 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1; basd1; bile acid synthesis defect, congenital, type 1; cbas1
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 1.
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