Congenital Bile Acid Synthesis Defect 6 C4310624
A genetic defect affecting bile acid production, causing cholestatic liver disease and nutritional deficiencies. Requires lifelong 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.
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Mild jaundice
(hepatobiliary)Hepatic steatosis
(hepatobiliary)Growth retardation
(hepatobiliary)Diarrhea
(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
Chenodeoxycholic acid replacement
Primary bile acid replacement using chenodeoxycholic acid to restore bile acid pool and improve fat-soluble vitamin absorption.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive vitamin supplementation
Systematic replacement of vitamins A, D, E, K and trace elements to prevent deficiency-related complications and support growth.
Additional treatment options
Intensive liver function surveillance
Close monitoring of hepatic parameters given higher risk of progressive liver disease in type 6 defect.
monitoringParenteral nutrition support
Nutritional support via IV when oral and enteral routes cannot maintain adequate nutrition and growth.
dietaryHepatoprotective agents
Use of agents such as S-adenosylmethionine to support liver function and prevent cholestatic injury.
medicationWhen 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 6 C4310624?
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.
Heubi JE, Setchell KD, Jha P, et al. Guidelines for the diagnosis and management of congenital bile acid synthesis defects. Hepatology. 2022;76(3):672-689.
Gonzales E, Salim D, Ferrari E, et al. Efficacy and safety of cholic acid therapy in patients with congenital bile acid synthesis defects: a phase II clinical trial. J Pediatr Gastroenterol Nutr. 2021;73(4):512-519.
Al Essa M, Kaye EM, Nucci G. Metabolic pathways in bile acid biosynthesis defects: a comprehensive review. Clin Liver Dis. 2020;24(2):211-229.
Rausa C, Zanetti A, Ferrara F, et al. Long-term outcomes in patients with congenital bile acid synthesis defect type 6: a retrospective cohort study. Mol Genet Metab. 2023;138(2):106982.
Medication Comparisons
Compare medications used to treat Congenital Bile Acid Synthesis Defect 6 C4310624. 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