Desmosterolosis
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| Desmosterolosis | |
|---|---|
| Other names | Deficiency of 3beta-hydroxysterol delta24-reductase[1] |
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| Desmosterol | |
Desmosterolosis is a defect in cholesterol biosynthesis.[2] It results in an accumulation of desmosterol and associated symptoms such as cataracts and ichthyosis.[3] The condition has been associated with mutations in 24-dehydrocholesterol reductase.[4] Certain anticholesterolemic and antiestrogenic drugs have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis symptoms.[5]
References
- ^ Reference, Genetics Home. "Desmosterolosis". Genetics Home Reference. Retrieved 14 April 2019.
- ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1 (90001): R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
- ^ FitzPatrick DR, Keeling JW, Evans MJ, et al. (January 1998). "Clinical phenotype of desmosterolosis". Am. J. Med. Genet. 75 (2): 145–52. doi:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S. PMID 9450875.
- ^ Waterham HR, Koster J, Romeijn GJ, et al. (October 2001). "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. doi:10.1086/323473. PMC 1226055. PMID 11519011.
- ^ Philipp Y. Maximov; Russell E. McDaniel; V. Craig Jordan (23 July 2013). Tamoxifen: Pioneering Medicine in Breast Cancer. Springer Science & Business Media. pp. 34–. ISBN 978-3-0348-0664-0.
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