Lathosterolosis

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Lathosterolosis
Other namesSC5D Deficiency, [1] Sterol C5-desaturase deficiency. [2]
Lathosterol.png
Lathosterol
Symptoms Facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness. [2]
Usual onsetBirth. [2]
Causes SC5D mutations. [2]
Differential diagnosis Smith-Lemli-Opitz syndrome. [1]

Lathosterolosis is an inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme 3-beta-hydroxysteroid-delta-5-desaturase. This leads to a flaw in the conversion of lathosterol to 7-dehydrocholesterol. Characteristics include facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness. [2] Brunetti-Pierri et al. originally described Lathosterolosis in 2002. [3] [4] [5] [6]

References

  1. 1 2 "OMIM Entry – #607330 – LATHOSTEROLOSIS". omim.org. Retrieved 14 April 2019.
  2. 1 2 3 4 5 "Lathosterolosis – About the Disease – Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-08-19.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ Ho, A. C. C.; Fung, C. W.; Siu, T. S.; Ma, O. C. K.; Lam, C. W.; Tam, S.; Wong, V. C. N. (2013). "Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome". JIMD Reports - Volume 12. Vol. 12. Cham: Springer International Publishing. pp. 129–134. doi:10.1007/8904_2013_255. ISBN   978-3-319-03461-4. PMC   3897790 . PMID   24142275 – via Springer Link.


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