Lathosterolosis

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]

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

See also

• SC5DL
• Lathosterol