Cerebrotendinous Xanthomatosis (CTX)
OMIM number: 213700
Comments closing date: 12/11/2026
Cerebrotendinous xanthomatosis (CTX) is a rare inherited condition that affects the body's ability to make certain bile acids needed to digest fats. As a result, waxy substances related to cholesterol build up in different parts of the body, especially the brain, tendons, eyes and other tissues. Symptoms can begin in childhood or early adulthood and may include long-term diarrhoea,early cataracts, learning or developmental difficulties, problems with balance and walking, memory or thinking difficulties, and swelling of tendons, particularly at the back of the ankles. Without treatment, symptoms usually worsen over time. CTX is inherited in an autosomal recessive manner. This means a child must inherit non-working copy of the CYP27A1 gene from both parents to be affected. Parents who each carry one altered copy are usually healthy carriers.
