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Classification and external resources
OMIM 602398

Desmosterolosis is a defect in cholesterol biosynthesis.[1] It results in an accumulation of desmosterol.[2]

It has been associated with 24-dehydrocholesterol reductase.[3]


  1. ^ Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12 Spec No 1: R75–88. PMID 12668600. doi:10.1093/hmg/ddg072. 
  2. ^ FitzPatrick DR, Keeling JW, Evans MJ, et al. (January 1998). "Clinical phenotype of desmosterolosis". Am. J. Med. Genet. 75 (2): 145–52. PMID 9450875. doi:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S. 
  3. ^ 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. PMC 1226055Freely accessible. PMID 11519011. doi:10.1086/323473.