Lathosterolosis
Recessive genetic condition
From Wikipedia, the free encyclopedia
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]
SymptomsFacial dysmorphism, congenital malformations, failure to thrive, developmental delay, and liver illness.[2]
Usual onsetBirth.[2]
| 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] |
