Cerebrotendinous Xanthomatosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Cerebrotendinous Xanthomatosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Summary

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 chenodeoxycholic acid. Deposits of cholesterol and cholestanol (a derivative of cholesterol) accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons, lens of the eye and arteries. Affected individuals can experience diarrhea and cataracts in childhood and may develop benign, fatty tumors (xanthomas) of the tendons during adolescence. If untreated, CTX can lead to progressive neurologic problems in young adulthood such as seizures, ataxia and dementia. Coronary heart disease is common. Some individuals with the adult symptoms of CTX experienced prolonged cholestatic jaundice during infancy. The specific symptoms and progression of this disorder can vary greatly from one individual to another. Long-term therapy with chenodeoxycholic acid has been effective in treating affected individuals.

Introduction

CTX was first described in the medical literature in1937. CTX is classified as a bile acid synthesis disorder (due to the underlying genetic mutation that causes deficiency in an important enzyme in the bile acid synthesis pathway; sterol 27-hydroxylase). Bile acids (chenodeoxycholic and cholic acid) are synthesized in the liver. They are an important component of bile and help the intestine to absorb fats. The disorder can also be classified as a lipid storage disorder (due to fat deposition in various tissues of the body) or a leukodystrophy (due to the involvement of central nervous system white matter).

Supporting Organizations

Australian Leukodystrophy Support Group, Inc.

Nerve Centre Building
54 Railway Road
BLACKBURN, VIC 3130
Australia
Tel: +61 3 9845 2831
Tel: 1800 141 400
Email: mail@alds.org.au
Website: http://www.alds.org.au

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

Council for Bile Acid Deficiency Diseases

8 Hitching Post Place
Rockville, MD 20852
Tel: (301)230-0101
Fax: (301)230-1407
Email: info@bileacid.org
Website: http://www.bileacid.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hunter's Hope Foundation, Inc.

PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
Tel: (716)667-1200
Fax: (716)667-1212
Tel: (877)984-4673
Email: info@huntershope.org
Website: http://www.huntershope.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

United Leukodystrophy Foundation

224 N. 2nd St.
Suite 2
DeKalb, IL 60115
Tel: (815)748-3211
Tel: (800)728-5483
Email: office@ulf.org
Website: http://www.ulf.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  9/11/2014
Copyright  2014 National Organization for Rare Disorders, Inc.