Serum lipids and apolipoproteins in children with the Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome (SLOS, McKusick 270400) is an autosomal recessive multiple congenital malformation/mental retardation syndrome caused by a deficiency of 3β-hydroxysteroid Δ 7 -reductase (7-dehydrocholesterol Δ 7 -reductase). As a result, markedly reduced cholesterol (C) concentration and accumulation of the precursor 7-dehydrocholesterol (7-DHC) and derivatives 8-dehydrocholesterol (8-DHC) and 19-nor-5,7,9(10)-cholestatrienol are found in serum and tissues (Salen et al 1996; Tint et al 1994). Although the essential metabolic defect was well defined in the cells, the lipoprotein system responsible for cholesterol transport in the blood has not been evaluated in detail until now. Here we report findings of serum lipids and apolipoproteins determined in SLOS children not treated with cholesterol.