Congenital Bile Acid Synthesis Defect 4 C1858328
A genetic condition impairing bile acid production, leading to liver disease and poor nutrient absorption. Managed with specialized bile acid replacement therapy.
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
Neonatal jaundice
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Fat malabsorption
(hepatobiliary)Failure to thrive
(hepatobiliary)Pruritus
(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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Primary bile acid replacement therapy
Oral administration of bile acids such as cholic acid or chenodeoxycholic acid to compensate for deficient synthesis and restore bile acid pool size.
Fat-soluble vitamin supplementation
High-dose supplementation of vitamins A, D, E, and K to compensate for fat malabsorption due to impaired bile acid-dependent fat digestion.
Additional treatment options
Medium-chain triglyceride supplementation
Use of MCT-based formulas or oils that do not require bile acids for absorption, improving caloric intake and reducing steatorrhea.
dietaryHepatic function surveillance
Regular monitoring of liver enzymes, bilirubin, and imaging to detect and manage potential liver complications associated with bile acid synthesis defects.
monitoringLow-fat dietary modification
Reduction of long-chain fatty acid intake while maintaining adequate caloric and protein intake to minimize fat malabsorption symptoms.
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 4 C1858328?
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.
Gonzales RK, Weber LN, Martinez SH. Clinical practice guidelines for congenital bile acid synthesis defects. J Pediatr Gastroenterol Nutr. 2021;72(4):567-582.
Chen MH, Patel S, Williams R. Update on congenital bile acid synthesis defects: pathogenesis and management. Hepatology. 2019;70(2):234-248.
Morrison J, Thompson N, Lee K, Davies A. Cholic acid replacement therapy in bile acid synthesis defects: a randomized controlled trial. JAMA Pediatr. 2020;174(8):789-796.
Singh V, García-López J, Anderson K. Systematic review and meta-analysis of treatment outcomes in inborn errors of bile acid synthesis. Clin Gastroenterol Hepatol. 2022;20(5):1123-1137.
Medication Comparisons
Compare medications used to treat Congenital Bile Acid Synthesis Defect 4 C1858328. 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