Bile Acid Coa Amino Acid N Acyltransferase Deficiency Cn305496
A liver disorder where the body cannot properly process bile acids, leading to liver damage and poor nutrient absorption. Treatment involves bile acid replacement and dietary changes.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Neonatal cholestasis
(hepatobiliary)Failure to thrive
(metabolic)Fat malabsorption
(gastrointestinal)Hepatomegaly
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Bile acid replacement therapy
Oral bile acid supplementation to compensate for the enzyme deficiency and restore normal bile acid pool. Cholic acid or chenodeoxycholic acid supplements are commonly used to provide the missing bile acids.
Medium-chain triglyceride supplementation
Dietary modification using MCT oil to improve fat absorption since reduced bile acid availability impairs long-chain fat digestion. MCTs are directly absorbed without requiring bile acids for emulsification.
Additional treatment options
Hepatobiliary monitoring
Regular assessment of liver function tests, bilirubin levels, and imaging to detect early signs of cholestasis or liver damage from bile acid deficiency.
monitoringFat-soluble vitamin supplementation
Supplementation with vitamins A, D, E, and K to prevent deficiencies caused by impaired fat absorption due to reduced bile acid pool.
dietaryNutritional counseling
Comprehensive dietary assessment and planning with a metabolic dietitian to ensure adequate caloric intake, appropriate fat sources, and balanced nutrition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Bile Acid Coa Amino Acid N Acyltransferase Deficiency Cn305496?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy