cerebrotendinous xanthomatosis
- cerebrotendinous xanthomatosis
- an autosomal recessive lipid storage disease caused by mutation in the CYP27A1 gene (locus: 2q33-qter), which encodes sterol 27-hydroxylase, an enzyme important in the bile synthesis pathway. It is characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, as well as by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with deposition of cholestanol and cholesterol in virtually all tissues.
Medical dictionary.
2011.
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