- Desmosterolosis
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Desmosterolosis Classification and external resources 
DesmosterolOMIM 602398 Desmosterolosis is a defect in cholesterol biosynthesis.[1]
It has been associated with 24-dehydrocholesterol reductase.[2]
It results in an accumulation of desmosterol.[3]
References
- ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1: R75–88. doi:10.1093/hmg/ddg072. PMID 12668600. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=12668600.
- ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61125-2.
- ^ 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.
Inborn error of steroid metabolism Mevalonate pathway To cholesterol 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia · CHILD syndrome · Conradi-Hünermann syndrome · Lathosterolosis · Smith-Lemli-Opitz syndrome
desmosterol path: DesmosterolosisSteroids aldosterone: Glucocorticoid remediable aldosteronism
cortisol/cortisone: CAH 17α hydroxylase · CAH 11β hydroxylase
both: CAH 3β dehydrogenase · CAH 21α hydroxylase · Apparent mineralocorticoid excess syndrome/11β dehydrogenaseTo androgensTo estrogensAromatase deficiencyOtherCategories:- Cholesterol and steroid metabolism disorders
- Medicine stubs
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