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{{Infobox medical condition (new)
{{Context|date=October 2010}}
| name = Desmosterolosis

| synonyms = Deficiency of 3beta-hydroxysterol delta24-reductase<ref>{{cite web |last1=Reference |first1=Genetics Home |title=Desmosterolosis |url=https://ghr.nlm.nih.gov/condition/desmosterolosis#synonyms |website=Genetics Home Reference |accessdate=14 April 2019 |language=en}}</ref>
{{Infobox disease
| Name = Desmosterolosis
| image = Desmosterol.png
| Image = Desmosterol.png
| caption = [[Desmosterol]]
| Caption = [[Desmosterol]]
| pronounce =
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| OMIM = 602398
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'''Desmosterolosis''' is a defect in [[cholesterol]] biosynthesis.<ref name="pmid12668600">{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=12 Spec No 1 |issue= |pages=R75–88 |date=April 2003 |pmid=12668600 |url=http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600 | doi = 10.1093/hmg/ddg072 }}</ref> It results in an accumulation of [[desmosterol]].<ref name="pmid9450875">{{cite journal |vauthors=FitzPatrick DR, Keeling JW, Evans MJ, etal |title=Clinical phenotype of desmosterolosis |journal=Am. J. Med. Genet. |volume=75 |issue=2 |pages=145–52 |date=January 1998 |pmid=9450875|doi=10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S}}</ref>


'''Desmosterolosis''' in [[medicine]] and [[biology]] is a defect in [[cholesterol]] biosynthesis.<ref name="pmid12668600">{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=12 Spec No 1 |issue= 90001|pages=R75–88 |date=April 2003 |pmid=12668600 | doi = 10.1093/hmg/ddg072 |doi-access=free }}</ref> It results in an accumulation of [[desmosterol]] and a variety of associated [[symptom]]s.<ref name="pmid9450875">{{cite journal |vauthors=FitzPatrick DR, Keeling JW, Evans MJ, etal |title=Clinical phenotype of desmosterolosis |journal=Am. J. Med. Genet. |volume=75 |issue=2 |pages=145–52 |date=January 1998 |pmid=9450875|doi=10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S}}</ref> Only two cases have been reported as of 2007.<ref name="Investigation,2007">{{cite book|author=American Society for Clinical Investigation|title=Science In Medicine: The JCI Textbook Of Molecular Medicine|url=https://books.google.com/books?id=Ykvt1S9n8V0C&pg=PA584|date=31 October 2007|publisher=Jones & Bartlett Learning|isbn=978-0-7637-5083-1|pages=584–}}</ref> The condition is due to inactivating [[mutation]]s in [[24-dehydrocholesterol reductase]].<ref name="pmid11519011">{{cite journal |vauthors=Waterham HR, Koster J, Romeijn GJ, etal |title=Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis |journal=Am. J. Hum. Genet. |volume=69 |issue=4 |pages=685–94 |date=October 2001 |pmid=11519011 |pmc=1226055 |doi=10.1086/323473 }}</ref> Certain [[anticholesterolemic]] and [[antiestrogen]]ic drugs such as [[triparanol]], [[ethamoxytriphetol]], and [[clomifene]] have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis, for instance [[cataract]]s.<ref name="MaximovMcDaniel2013">{{cite book|author1=Philipp Y. Maximov|author2=Russell E. McDaniel|author3=V. Craig Jordan|title=Tamoxifen: Pioneering Medicine in Breast Cancer|url=https://books.google.com/books?id=p-W5BAAAQBAJ&pg=PA34|date=23 July 2013|publisher=Springer Science & Business Media|isbn=978-3-0348-0664-0|pages=34–}}</ref>
It has been associated with [[24-dehydrocholesterol reductase]].<ref name="pmid11519011">{{cite journal |vauthors=Waterham HR, Koster J, Romeijn GJ, etal |title=Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis |journal=Am. J. Hum. Genet. |volume=69 |issue=4 |pages=685–94 |date=October 2001 |pmid=11519011 |pmc=1226055 |doi=10.1086/323473 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61125-2}}</ref>


==References==
==References==
{{reflist}}
{{Reflist}}


==External links==
{{Medical resources
| DiseasesDB =
| ICD10 = Q87.8
| ICD9 =
| ICDO =
| OMIM = 602398
| MedlinePlus =
| eMedicineSubj =
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| eMedicineTopic =
| MeshID =
| Orphanet = 35107
}}
{{Defects of steroid metabolism}}
{{Defects of steroid metabolism}}


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{{disease-stub}}
{{Endocrine-disease-stub}}

Latest revision as of 16:42, 1 November 2021

Desmosterolosis
Other namesDeficiency of 3beta-hydroxysterol delta24-reductase[1]
Desmosterol

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]

References

[edit]
  1. ^ Reference, Genetics Home. "Desmosterolosis". Genetics Home Reference. Retrieved 14 April 2019.
  2. ^ 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.
  3. ^ 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.
  4. ^ American Society for Clinical Investigation (31 October 2007). Science In Medicine: The JCI Textbook Of Molecular Medicine. Jones & Bartlett Learning. pp. 584–. ISBN 978-0-7637-5083-1.
  5. ^ 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.
  6. ^ 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.
[edit]


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