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.

[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.

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