If you are experiencing a medical emergency please dial 911 immediately
It is possible that the main title of the report Cerebrotendinous Xanthomatosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodexoycholic acid. Cholestanol deposits accumulate in the nerve cells and membranes, and cause damage to the brain, spinal cord, tendons, lens of the eye and arteries. Affected individuals experience cataracts in childhood, and benign, fatty tumors (xanthomas) of the tendons during adolescence. This leads to progressive neurologic problems in adulthood such as paralysis, ataxia and dementia. Coronary heart disease is common.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Australian Leukodystrophy Support Group, Inc.
54 Railway Road
Blackburn, VIC 3130
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Council for Bile Acid Deficiency Diseases
8 Hitching Post Place
Rockville, MD 20852
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 3/15/2011
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