Lathosterolosis

Lathosterolosis
Other names	SC5D Deficiency^[1]

Lathosterol

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

See also

SC5DL
Lathosterol

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

Inborn errors of steroid metabolism

Mevalonate
pathway

HMG-CoA lyase deficiency

7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
CHILD syndrome
Conradi-Hünermann syndrome
Lathosterolosis
Smith–Lemli–Opitz syndrome

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 2 deficiency Pseudovaginal perineoscrotal hypospadias
To estrogens	Aromatase deficiency Aromatase excess syndrome

Other

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