Lathosterolosis
Lathosterolosis is an Inborn [errors of metabolism|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, Global [developmental delay|developmental delay], and liver illness. Brunetti-Pierri et al. originally described Lathosterolosis in 2002.