Desmosterolosis

Desmosterolosis in medicine and biology is a defect in cholesterol biosynthesis.^[2] It results in an accumulation of desmosterol and a variety of associated symptoms.^[3] Only two cases have been reported as of 2007.^[4] The condition is due to inactivating mutations in 24-dehydrocholesterol reductase.^[5] Certain anticholesterolemic and antiestrogenic drugs such as triparanol, ethamoxytriphetol, and clomifene have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis, for instance cataracts.^[6]

Desmosterolosis
Other names	Deficiency of 3beta-hydroxysterol delta24-reductase[1]
Desmosterol