Desmosterolosis

Desmosterolosis

Desmosterol

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]

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.
↑ 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.
↑ 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.

External links

Classification	D ICD-10: Q87.8 OMIM: 602398
External resources	Orphanet: 35107

Inborn errors of steroid metabolism

Mevalonate
pathway

HMG-CoA lyase deficiency

desmosterol path: Desmosterolosis

Corticosteroid
(including CAH)

aldosterone: Glucocorticoid remediable aldosteronism

To androgens	17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b₅ deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-Reductase deficiency Pseudovaginal perineoscrotal hypospadias
To estrogens	Aromatase deficiency Aromatase excess syndrome

Other

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