Cerebrotendinous Xanthomatosis

Below you will find more information about Cerebrotendinous Xanthomatosis from Medigest. If you believe that you are suffering from any of the symptoms of Cerebrotendinous Xanthomatosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cerebrotendinous Xanthomatosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cerebrotendinous Xanthomatosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cerebrotendinous Xanthomatosis (CTX) is a rare metabolic disease that affects the body's lipid storage system.


CTX can be diagnosed via genetic testing and metabolic molecular examinations.


Treatment for the disease includes the use of a molecule named chenodeoxycholic acid, which inhibits abnormal bile acid synthesis causing the progress of the disease to slow down.

Symptoms and Signs

Infants with CTX usually suffer chronic bouts of diarrhea, as well as cataracts and psychomotor retardation. Adults meanwhile show signs of neruologic dysfunctions, premature arteriosclerosis, skin lesions, optic disk paleness, coronary artery diseases, and dementia.


CTX is caused by a defective mutation in the CYP27A1 gene, the gene that produces an enzyme that processes cholesterol into bile acids. Because of this defect, the cholesterol that's supposed to be processed by the missing enzyme is absorbed by the tissues and causes damages.

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