Desmosterolosis Explained

Desmosterolosis
Synonyms:	Deficiency of 3beta-hydroxysterol delta24-reductase^[1]

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]

Notes and References

1. Web site: Reference . Genetics Home . Desmosterolosis . Genetics Home Reference . 14 April 2019 . en.
2. Herman GE . Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes . Hum. Mol. Genet. . 12 Spec No 1 . 90001. R75–88 . April 2003 . 12668600 . 10.1093/hmg/ddg072 . free .
3. FitzPatrick DR, Keeling JW, Evans MJ, etal . Clinical phenotype of desmosterolosis . Am. J. Med. Genet. . 75 . 2 . 145–52 . January 1998 . 9450875. 10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S.
4. Book: American Society for Clinical Investigation. Science In Medicine: The JCI Textbook Of Molecular Medicine. 31 October 2007. Jones & Bartlett Learning. 978-0-7637-5083-1. 584–.
5. Waterham HR, Koster J, Romeijn GJ, etal . Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis . Am. J. Hum. Genet. . 69 . 4 . 685–94 . October 2001 . 11519011 . 1226055 . 10.1086/323473 .
6. Book: Philipp Y. Maximov. Russell E. McDaniel. V. Craig Jordan. Tamoxifen: Pioneering Medicine in Breast Cancer. 23 July 2013. Springer Science & Business Media. 978-3-0348-0664-0. 34–.