Definition:
Cerebrotendineous xanthomatosis otherwise known as the cerebrotendinous xanthomatosis, or Van Bogaert-Scherer-Epstein syndrome, or the cerebrotendinous cholesterosis, is a kind of xanthomatosis that isassociated with the CYP27A1 geneon the 2nd Chromosome.
Diagnosis:
Diagnosis includes a biochemical analysis of certain molecules in the blood and urine.
Treatment:
Treatment includes administration of chenodeoxycholic acid, a cost-effective therapy (Moghadasian, MH. Department of Human Nutritional Sciences and National Centre for Agri-food Research in Medicine, University of Manitoba, Winnipeg, Man).
Symptoms and Signs:
The symptoms includes chronic diarrhea during infancy, cataracts or the clouding of the lens of the eye which may develop late in childhood, brittle bones that are prone to fracture and other neurological problems that may arise in adulthood like dementia, seizures, hallucinations, depressions and ataxia and dysarthria.
Causes:
It is caused by a mutation in a gene called CYP27A1 which is said to be responsible for the production of an enzyme named as sterol 27-hydroxylase which in turn is responsible for turning cholesterol into bile acids which are important in the absorption of fats in the intestine. It is however said that it is an inherited disorder associated.
:
xanthomatosiscerebrotendinous
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