Desmosterolosis

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Desmosterolosis
Desmosterol.png
Desmosterol
OMIM 602398

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]

Overview

Desmosterolosis is rare disorder characterized by multiple congenital anomalies and elevated levels of the desmosterol in plasma, tissue, and cultured cells.

Pathophysiology

Genetics

  • It is a rare autosomal recessive disorder.
  • It has been associated with 24-dehydrocholesterol reductase.[1]
  • It results in an accumulation of desmosterol.[2]

Diagnosis

Physical Examination

Appearance of the Patient

Head

X Ray

References

  1. Waterham HR, Koster J, Romeijn GJ; et al. (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.  Unknown parameter |month= ignored (help)
  2. FitzPatrick DR, Keeling JW, Evans MJ; et al. (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.  Unknown parameter |month= ignored (help)

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