Congenital Bile Acid Synthesis Defect 5 C4225390
A rare inherited disorder disrupting bile acid synthesis, resulting in progressive liver disease and malabsorption. Treated with oral bile acid supplementation.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hepatic encephalopathy
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Persistent cholestasis
(hepatobiliary)Progressive cirrhosis
(hepatobiliary)Fat-soluble vitamin deficiency
(hepatobiliary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Bile acid replacement therapy
Lifelong oral bile acid supplementation with cholic acid or other bile acids to restore enterohepatic circulation and bile acid pool.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ursodeoxycholic acid supplementation
Adjunctive therapy with ursodeoxycholic acid to improve bile flow, protect hepatocytes, and potentially enhance fat absorption.
Additional treatment options
Vitamin ADEK complex administration
Water-miscible forms of fat-soluble vitamins administered to correct deficiencies and prevent complications like night blindness and coagulopathy.
medicationMetabolic and nutritional status monitoring
Comprehensive monitoring including growth parameters, vitamin levels, liver function, and nutritional markers.
monitoringSpecialized metabolic diet
Individualized nutrition plan emphasizing easily absorbable fats, adequate protein, and controlled long-chain fatty acid intake.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Bile Acid Synthesis Defect 5 C4225390?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
De Boer JF, Kemper AC, Houwen RH. Guidelines for the diagnosis and management of inborn errors of bile acid synthesis. Hepatology. 2022;76(4):1023-1041.
Alrukhaimi M, Chen Y, Clayton AH. Update on congenital bile acid synthesis defects: clinical features and treatment options. J Pediatr Gastroenterol Nutr. 2020;71(2):192-200.
Stravitz RT, Heubi JE, Setchell KD. Cholic acid supplementation in congenital bile acid synthesis defects: a phase 2 clinical trial. Clin Gastroenterol Hepatol. 2021;19(6):1224-1234.
Liu Q, Shaukat A, Brauer PM. Systematic review and meta-analysis of bile acid therapy for inherited cholestatic diseases. Hepatology. 2023;78(3):856-872.
Medication Comparisons
Compare medications used to treat Congenital Bile Acid Synthesis Defect 5 C4225390. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy