cerebrotendinous xanthomatosis
Patients with inherited "cerebrotendinous xanthomatosis" lack sterol 27-hydroxylase (CYP27A1) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations.
Patients with inherited "<span class="disease" id="19801147-3-25-55">cerebrotendinous xanthomatosis</span>" lack <span class="gene" id="19801147-3-62-83">sterol 27-hydroxylase</span> (<span class="gene" id="19801147-3-85-92">CYP27A1</span>) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations.