| Desmosterolosis | |
|---|---|
| Other names | Deficiency of 3beta-hydroxysterol delta24-reductase |
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| Desmosterol | |
Desmosterolosis in medicine and biology is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol and a variety of associated symptoms. Only two cases have been reported as of 2007. The condition is due to inactivating mutations in 24-dehydrocholesterol reductase. 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.