Lathosterolosis

Lathosterolosis is a defect in cholesterol biosynthesis.[2][3][4]

Lathosterolosis
Other names	SC5D Deficiency[1]

Lathosterol

See also

References

"OMIM Entry - # 607330 - LATHOSTEROLOSIS". omim.org. Retrieved 14 April 2019.
Herman GE (April 2003). "Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes". Hum. Mol. Genet. 12. Spec No 1 (90001): R75–88. doi:10.1093/hmg/ddg072. PMID 12668600.
Brunetti-Pierri N, Corso G, Rossi M, et al. (October 2002). "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase". Am. J. Hum. Genet. 71 (4): 952–8. doi:10.1086/342668. PMC 378549. PMID 12189593.
Krakowiak PA, Wassif CA, Kratz L, et al. (July 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency". Hum. Mol. Genet. 12 (13): 1631–41. doi:10.1093/hmg/ddg172. PMID 12812989.

External links

Classification	D OMIM: 607330 MeSH: C537880
External resources	Orphanet: 46059

Inborn errors of steroid metabolism

Mevalonate
pathway

HMG-CoA lyase deficiency

Hyper-IgD syndrome
Mevalonate kinase 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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.