Desmosterolosis


Desmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol reductase causes accumulation of desmosterol in plasma. Symptoms include cleft palate, clubfoot, dysmorphism, mental and motor retardation, and speech development.

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References

  1. OMIM: Entry 602398
  2. Metagene: mp=DESMOSTEROLOSIS
  3. Andersson HC, Kratz L, Kelley R: Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet. 2002 Dec 15;113(4):315-9. Pubmed
  4. FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT: Clinical phenotype of desmosterolosis. Am J Med Genet. 1998 Jan 13;75(2):145-52. Pubmed
  5. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ: Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22. Pubmed