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Cerebrotendinous Xanthomatosis

Abstract

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NORD is very grateful to Andrea DeBarber, PhD, Research Assistant Professor, Physiology & Pharmacology Department, Oregon Health & Science University, for assistance in the preparation of this report.

Synonyms of Cerebrotendinous Xanthomatosis

  • cerebral cholesterinosis
  • CTX
  • sterol 27-hydroxylase deficiency

Disorder Subdivisions

  • No subdivisions found.

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).

Cerebrotendinous Xanthomatosis Resources

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