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Summary
Cerebrotendinous xanthomatosis is a rare genetic disorder affecting bile acid metabolism. Treatment with chenodeoxycholic acid may slow disease progression by reducing cholestanol production.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder.
- Characterized by abnormal bile acid metabolism.
- Clinical manifestations include cataracts and tendinous xanthomas, typically appearing during adolescence.