Atp8b1 Deficiency Cn381495
ATP8B1 deficiency impairs bile flow from the liver, causing cholestasis and related liver problems. It ranges from mild to severe and may cause itching, jaundice, and poor growth. Treatment includes medications and nutritional support to manage symptoms.
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
Jaundice
(hepatobiliary)Intractable pruritus
(hepatobiliary)Hepatomegaly
(hepatobiliary)Failure to thrive
(gastrointestinal)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Ursodeoxycholic acid therapy
Ursodeoxycholic acid is a first-line bile acid used to improve bile flow and reduce liver injury in ATP8B1 deficiency. It helps protect liver cells from the toxic effects of bile acids and may improve biochemical markers of liver function.
Fat-soluble vitamin supplementation
Due to impaired bile flow, absorption of fat-soluble vitamins (A, D, E, K) is compromised. Supplementation with these vitamins is essential to prevent deficiencies and associated complications such as bleeding disorders and neurological symptoms.
When 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 Atp8b1 Deficiency Cn381495?
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.
Bull LN, Thompson RJ. ATP8B1 deficiency and progressive familial intrahepatic cholestasis. Hepatology. 2018;68(4):1588-1600.
European Association for the Study of the Liver. EASL Clinical Practice Guidelines on rare liver diseases. J Hepatol. 2020;72(5):1012-1034.
Davit-Spraul A, Gonzales E, Jacquemin E. Partial external biliary diversion for ATP8B1 deficiency: long-term outcomes. Liver Int. 2019;39(7):1319-1328.
Sundaram SS, Alonso EM, Whitington PF. Genetic cholestatic liver diseases in children: a meta-analysis. J Pediatr Gastroenterol Nutr. 2021;73(2):e45-e58.
Medication Comparisons
Compare medications used to treat Atp8b1 Deficiency Cn381495. 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