Lathosterolosis

Lathosterolosis
Other namesSC5D Deficiency, Sterol C5-desaturase deficiency.
Lathosterol
SymptomsFacial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness.
Usual onsetBirth.
CausesSC5D mutations.
Differential diagnosisSmith-Lemli-Opitz syndrome.

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.

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