Cerebrotendinous xanthomatosis
ORPHA:909· ICD-10 E75.5
Definition
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal