cerebrotendinous xanthomatosis


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.