Desmosterolosis | |
---|---|
Other names | Deficiency of 3beta-hydroxysterol delta24-reductase [1] |
![]() | |
Desmosterol |
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 |
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]