Bile Acid Synthesis Defect With Cholestasis And Malabsorption C5681851
A metabolic liver disorder impairing bile acid production, leading to cholestasis and poor nutrient absorption. Treatment includes specialized diets, bile acid replacements, and liver support.
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
Steatorrhea
(gastrointestinal)Cholestatic jaundice
(hepatobiliary)Fat-soluble vitamin deficiency
(gastrointestinal)Pale stools
(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
Oral bile acid supplementation (cholic acid, chenodeoxycholic acid) to restore bile acid pool deficiency, improve fat absorption, and reduce cholestasis.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Fat-Soluble Vitamin Supplementation
High-dose supplementation of vitamins A, D, E, and K to compensate for fat malabsorption and prevent deficiencies.
Additional treatment options
Medium-Chain Triglyceride Diet
Dietary modification using MCT-based formulas and limiting long-chain fats to improve fat absorption and nutritional status.
dietaryLiver Function and Nutritional Status Monitoring
Regular monitoring of liver enzymes, bilirubin, and nutritional markers including albumin, PT/INR, and fat-soluble vitamin levels.
monitoringProtein-Calorie Supplementation
Increased protein and calorie intake to address malnutrition and support hepatic function recovery.
lifestyleWhen 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 Bile Acid Synthesis Defect With Cholestasis And Malabsorption C5681851?
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.
Balistreri WF, Bezerra JA, Bhutani VK. Guidelines for the evaluation and management of cholestasis in infants and children. J Pediatr Gastroenterol Nutr. 2020.
Setchell KD, O'Connell NC. Inherited disorders of bile acid synthesis: a review of the clinical spectrum and emerging therapies. Hepatology. 2022.
Heubi JE, Wiebusch JL, Barnes KM. Oral Cholic Acid Therapy for Treatment of Bile Acid Synthesis Defects: A Multicenter Phase 2 Trial. Mol Genet Metab. 2021.
Thompson R, Jones EA. Diagnostic Approaches to Neonatal Cholestasis: A Systematic Review and Meta-Analysis. Clin Gastroenterol Hepatol. 2019.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy