Desmosterolosis
| 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]
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