Lathosterolosis
| Lathosterolosis | |
|---|---|
| Other names | SC5D Deficiency,[1]Sterol C5-desaturase deficiency.[2] |
 | |
| Lathosterol | |
| Symptoms | Facial dysmorphism,congenital malformations,failure to thrive,developmental delay,andliver illness.[2] |
| Usual onset | Birth.[2] |
| Causes | SC5Dmutations.[2] |
| Differential diagnosis | Smith-Lemli-Opitz syndrome.[1] |
Lathosterolosisis aninborn error of cholesterol biosynthesiscaused by a deficiency of the enzyme3-beta-hydroxysteroid-delta-5-desaturase.This leads to a flaw in the conversion oflathosterolto7-dehydrocholesterol.Characteristics includefacial dysmorphism,congenital malformations,failure to thrive,developmental delay,andliver illness.[2]Brunetti-Pierri et al. originally described Lathosterolosis in 2002.[3][4][5][6]
See also
[edit]References
[edit]- ^ab"OMIM Entry – #607330 – LATHOSTEROLOSIS".omim.org.Retrieved14 April2019.
- ^abcde"Lathosterolosis – About the Disease – Genetic and Rare Diseases Information Center".rarediseases.info.nih.gov.Retrieved2023-08-19.
- ^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.PMID12668600.
- ^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.PMC378549.PMID12189593.
- ^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.PMID12812989.
- ^Ho, A. C. C.; Fung, C. W.; Siu, T. S.; Ma, O. C. K.; Lam, C. W.; Tam, S.; Wong, V. C. N.Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome.JIMD Reports. Cham: Springer International Publishing. pp. 129–134.doi:10.1007/8904_2013_255.ISBN978-3-319-03461-4– via Springer Link.
External links
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