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.
- Genetics Home Reference (GHR) contains information on Cerebrotendinous xanthomatosis. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cerebrotendinous xanthomatosis. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.