Bile acid CoA ligase deficiency and defective amidation
ORPHA:276066· ICD-10 K76.8
Definition
Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure.
- Prevalence
- Unknown
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal