Overview
Congenital bile acid synthesis defect (also called inborn error of bile acid synthesis or primary bile acid synthesis disorder) is a rare inherited condition 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 liver cells. When bile acids are not made correctly, harmful intermediate chemicals build up in the liver and other tissues, causing damage over time. At the same time, the body does not absorb enough fat-soluble vitamins, leading to nutritional deficiencies. The liver is the organ most affected, and without treatment, serious liver disease can develop in infancy or childhood. The main symptoms include yellowing of the skin and eyes (jaundice), poor growth, fatty stools, and signs of vitamin deficiency such as bone problems or bleeding. The good news is that when caught early, treatment with oral bile acid replacement therapy — most commonly cholic acid — can be very effective. In some cases, early treatment can prevent liver failure and allow children to live relatively normal lives. Liver transplant may be needed in severe or late-diagnosed cases.
Also known as:
Key symptoms:
Yellowing of the skin and whites of the eyes (jaundice)Enlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)Poor weight gain and slow growth in infantsPale or greasy, foul-smelling stools (steatorrhea)Itchy skin (cholestatic pruritus)Easy bruising or unusual bleeding due to low vitamin KBone pain or fractures due to low vitamin DVision problems due to low vitamin AMuscle weakness due to low vitamin EFatigue and low energyAbdominal swelling or discomfortDark urine
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Congenital bile acid synthesis defect.
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Specialists
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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 Congenital bile acid synthesis defect.
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Caregiver Resources
NORD Caregiver Resources
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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 subtype of bile acid synthesis defect does my child have, and which gene is affected?,Is my child a candidate for cholic acid (Kolbam/Orphacol) treatment, and how soon should we start?,How often do we need to check liver function and vitamin levels, and what are we watching for?,What signs should prompt me to bring my child to the emergency room?,Are other family members at risk, and should siblings or parents be tested?,What is the long-term outlook for my child's specific subtype with treatment?,Are there any clinical trials or research studies we should consider joining?
Common questions about Congenital bile acid synthesis defect
What is Congenital bile acid synthesis defect?
Congenital bile acid synthesis defect (also called inborn error of bile acid synthesis or primary bile acid synthesis disorder) is a rare inherited condition 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 liver cells. When bile acids are not made correctly, harmful intermediate chemicals build up in the liver and other tissues, causing damage over time. At the
How is Congenital bile acid synthesis defect inherited?
Congenital bile acid synthesis defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital bile acid synthesis defect typically begin?
Typical onset of Congenital bile acid synthesis defect is infantile. Age of onset can vary across affected individuals.