Overview
Disorders of bile acid synthesis are a group of rare inherited conditions where the body cannot properly make bile acids. Bile acids are special chemicals produced in the liver that help digest fats and fat-soluble vitamins (like vitamins A, D, E, and K) from the food you eat. They also help keep the liver healthy by allowing waste products to flow out of it. When bile acid synthesis is disrupted, harmful substances can build up in the liver, and the body cannot absorb important nutrients properly. These disorders are sometimes called 'inborn errors of bile acid metabolism' or 'primary bile acid synthesis defects.' There are several different types, each caused by a problem in a different gene that controls a step in the bile acid production process. The most common symptoms include yellowing of the skin and eyes (jaundice), liver disease, poor growth, and signs of vitamin deficiency such as weak bones or vision problems. The good news is that some forms of this condition can be treated effectively with oral bile acid replacement therapy. Cholic acid (sold as Kolbam) is an FDA-approved treatment that can significantly improve liver function and quality of life for many patients, especially when started early. Without treatment, the disease can progress to serious liver damage, but with proper care, many patients do well.
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice)Enlarged liver or spleenPoor weight gain and slow growth in infants and childrenPale or greasy stoolsDark urineItchy skinFatigue and low energyEasy bruising or bleeding (due to vitamin K deficiency)Bone pain or fractures (due to vitamin D deficiency)Vision problems, especially night blindness (due to vitamin A deficiency)Nerve problems such as numbness or balance difficulties (due to vitamin E deficiency)Abdominal pain or swellingLiver scarring (cirrhosis) in advanced cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsUniversity of Sao Paulo — NA
Mirum Pharmaceuticals, Inc.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of bile acid synthesis.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of bile acid synthesis.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific type of bile acid synthesis disorder does my child (or I) have, and which gene is affected?,Is my child a candidate for cholic acid (Kolbam) treatment, and how soon should we start?,How much liver damage has already occurred, and is it reversible with treatment?,What vitamins should be supplemented, and at what doses?,How often do we need blood tests and specialist visits to monitor the condition?,Are other family members at risk, and should they be tested?,What signs should prompt me to seek emergency care?
Common questions about Disorder of bile acid synthesis
What is Disorder of bile acid synthesis?
Disorders of bile acid synthesis are a group of rare inherited conditions where the body cannot properly make bile acids. Bile acids are special chemicals produced in the liver that help digest fats and fat-soluble vitamins (like vitamins A, D, E, and K) from the food you eat. They also help keep the liver healthy by allowing waste products to flow out of it. When bile acid synthesis is disrupted, harmful substances can build up in the liver, and the body cannot absorb important nutrients properly. These disorders are sometimes called 'inborn errors of bile acid metabolism' or 'primary bile a
How is Disorder of bile acid synthesis inherited?
Disorder of bile acid synthesis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Disorder of bile acid synthesis?
Yes — 2 recruiting clinical trials are currently listed for Disorder of bile acid synthesis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Disorder of bile acid synthesis?
3 specialists and care centers treating Disorder of bile acid synthesis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.