Lathosterolosis

{{Short description|Recessive genetic condition}}

{{Infobox medical condition (new)

| name = Lathosterolosis

| synonyms = SC5D Deficiency,{{cite web |title=OMIM Entry – #607330 – LATHOSTEROLOSIS |url=https://omim.org/entry/607330 |website=omim.org |accessdate=14 April 2019}} Sterol C5-desaturase deficiency.{{cite web|access-date=2023-08-19|title=Lathosterolosis – About the Disease – Genetic and Rare Diseases Information Center|url=https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis|website=rarediseases.info.nih.gov}}

| image = Lathosterol.png

| caption = Lathosterol

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| symptoms = Facial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness.

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| onset = Birth.

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| causes = SC5D mutations.

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| differential = Smith-Lemli-Opitz syndrome.

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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. Brunetti-Pierri et al. originally described Lathosterolosis in 2002.{{cite journal |author=Herman GE |title=Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes |journal=Hum. Mol. Genet. |volume=Spec No 1 |issue= 90001|pages=R75–88 |series=12 |date=April 2003 |pmid=12668600 |doi= 10.1093/hmg/ddg072|doi-access=free }}{{cite journal |vauthors=Brunetti-Pierri N, Corso G, Rossi M, etal |title=Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase |journal=Am. J. Hum. Genet. |volume=71 |issue=4 |pages=952–8 |date=October 2002 |pmid=12189593 |pmc=378549 |doi=10.1086/342668 }}{{cite journal |vauthors=Krakowiak PA, Wassif CA, Kratz L, etal |title=Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency |journal=Hum. Mol. Genet. |volume=12 |issue=13 |pages=1631–41 |date=July 2003 |pmid=12812989 |doi= 10.1093/hmg/ddg172|doi-access=free }}{{cite book|first1=A. C. C.|last1=Ho|first2=C. W.|last2=Fung|first3=T. S.|last3=Siu|first4=O. C. K.|last4=Ma|title=Lathosterolosis: A Disorder of Cholesterol Biosynthesis Resembling Smith-Lemli-Opitz Syndrome|publisher=Springer International Publishing|location=Cham|isbn=978-3-319-03461-4|pages=129–134|series=JIMD Reports|via=Springer Link|doi=10.1007/8904_2013_255|first5=C. W.|last5=Lam|first6=S.|last6=Tam|first7=V. C. N.|last7=Wong}}