cerebrotendinous xanthomatosis
Normolipidemic patients with the rare disease cerebrotendinous xanthomatosis, lacking the enzyme sterol 27-hydroxylase (CYP27A1), develop prominent xanthomas in tendons and brain containing both cholestanol and cholesterol, with a cholestanol:cholesterol ratio higher than that in the circulation.
Normolipidemic patients with the rare disease <span class="disease" id="12117727-3-46-76">cerebrotendinous xanthomatosis</span>, lacking the enzyme <span class="gene" id="12117727-3-97-118">sterol 27-hydroxylase</span> (<span class="gene" id="12117727-3-120-127">CYP27A1</span>), develop prominent xanthomas in tendons and brain containing both cholestanol and cholesterol, with a cholestanol:cholesterol ratio higher than that in the circulation.