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.

This article about an endocrine, nutritional, or metabolic disease is a stub.