Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.
|Original language||English (US)|
|Number of pages||5|
|State||Published - 1995|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health