Cerebrotendinous xanthomatosis | definition of cerebrotendinous xanthomatosis by Medical dictionary
Also found in: Acronyms
cer·e·bro·ten·di·nous xan·tho·ma·to·sis [MIM*213700]
a metabolic disorder associated with deposition of cholestanol and cholesterol in the brain and other tissues; plasma cholestanol level is high but plasma cholesterol level is normal; characterized by progressive cerebellar ataxia beginning after puberty, cataracts, spinal cord involvement, premature atherosclerosis, and tendinous or tuberous xanthomata; due to a defect in hepatic mitochondrial sterol 27-hydroxylase in bile acid biosynthesis; autosomal recessive inheritance, caused by mutation in the gene involved in cytochrome P-450 in the C27 position (CYP27) on chromosome 2q.
cer·e·bro·ten·di·nous xan·tho·ma·to·sis (serĕ-brō-tendi-nŭs zanthōmă-tōsis) [MIM*213700]
Metabolic disorder associated with bodily deposition of cholestanol and cholesterol.
References in periodicals archive
Cerebrotendinous xanthomatosis treatment includes chenodeoxycholic acid and HMG-CoA-reductase inhibitors.
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
The method contributes to the diagnosis of some rare genetic diseases like cerebrotendinous xanthomatosis
, Niemann-Pick type C disease, and Smith-LemliOpitz-Syndrome in a single run.
High-throughput urine screening for SmithLemli-Opitz syndrome and cerebrotendinous xanthomatosis
using negative electrospray tandem mass spectrometry.
We show the clinical usefulness of the technique by successfully applying it to 4 inherited disorders in lipid metabolism: SLOS, cerebrotendinous xanthomatosis
(CTX), sitosterolemia, and Refsum disease.