Cerebrotendinous xanthomatosis
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Cerebrotendinous xanthomatosis (CTX) is a type of lipid storage disease. It is caused by mutations in the CYP27A1 gene.[1][2] Symptoms of cerebrotendinous xanthomatosis include infantile-onset diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction.[2] Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and cataract extraction.[2]
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- More Detailed Information (Found: 6 Resources)
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Genetics Home Reference (GHR) contains a condition summary on Cerebrotendinous xanthomatosis. Click on the link to go to GHR and review this summary.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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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.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cerebrotendinous xanthomatosis. Click on the link to go to OMIM and review these resources.
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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.
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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United Leukodystrophy Foundation (ULF)
2304 Highland Drive
Sycamore IL 60178
Toll-free: 800-728-5483
Phone: 815-895-3211
Fax: 815-895-2432
Email: office@ulf.org
Web site: http://www.ulf.org/
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Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe CW2 6BG
United Kingdom
Phone: 0800 652 3181 (toll free)
Email: info.svcs@climb.org.uk
Web site: www.climb.org.uk
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ClinicalTrials.gov lists trials that are studying or have studied Cerebrotendinous xanthomatosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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