Mesh term Xanthomatosis, Cerebrotendinous
Browse to parent terms:Lipid Metabolism, Inborn Errors
Xanthomatosis
Description
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.Search for this term in our Faculty Database
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