![cover image](https://wikiwandv2-19431.kxcdn.com/_next/image?url=https://upload.wikimedia.org/wikipedia/commons/thumb/3/3c/Desmosterol.png/640px-Desmosterol.png&w=640&q=50)
Desmosterolosis
Medical condition / From Wikipedia, the free encyclopedia
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]
Quick Facts Other names ...
Desmosterolosis | |
---|---|
Other names | Deficiency of 3beta-hydroxysterol delta24-reductase[1] |
![]() | |
Desmosterol |
Close