Other Names for this Disease
- Cerebral cholesterinosis
- Sterol 27-hydroxylase deficiency
lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts.Cerebrotendinous xanthomatosis is a type of
Last updated: 9/12/2013
- Federico A, Dotti MT, Gallus GN. Cerebrotendinous Xanthomatosis. GeneReviews. August 1, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctx. Accessed 9/12/2013.
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