Definition:
Cerebrotendinous Xanthomatosis (CTX) is a rare metabolic disease that affects the body's lipid storage system.
Diagnosis:
CTX can be diagnosed via genetic testing and metabolic molecular examinations.
Treatment:
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.
Causes:
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.
:
cerebrotendinousxanthomatosis
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