Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.
|Original language||English (US)|
|Title of host publication||Encyclopedia of the Neurological Sciences|
|Number of pages||5|
|State||Published - Jan 1 2014|
- Smith-Lemli-Opitz syndrome
- Sterol disorders
ASJC Scopus subject areas