Lathosterolosis
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Template:Short description Template:Infobox medical condition (new) 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.[1] Brunetti-Pierri et al. originally described Lathosterolosis in 2002.[2][3][4][5]
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