Abstract

GARCIA-FUENTES, E.; VICIOSO, M.I  and  CASTILLO, E. del. Rápida identificación del 7-dehidrocolesterol en pacientes con Síndrome de Smith-Lemli-Opitz. Rev Diagn Biol [online]. 2001, vol.50, n.2, pp.83-86. ISSN 0034-7973.

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder characterised by a low serum cholesterol levels and an accumulation of his precursor, 7-dehydrocholesterol. The enzymatic method for cholesterol measurement (based on cholesterol oxidase) give falsely high values for serum cholesterol in samples from patients with this syndrome. However, the diagnosis should always be confirmed by demonstrating markedly increased concentration of 7-dehydrocholesterol. We used a simple and rapid method for detection of serum 7-dehydrocholesterol by use of ultraviolet spectrophotometry. 7-dehydrocholesterol showed characteristic ultraviolet spectrum with absorption maxim at 271, 282 and 293 nm. This test appears to be sensitive enough to detect increased levels of 7-dehydrocholesterol. We conclude that ultraviolet spectrophotometry determination of serum 7-dehydrocholesterol is a simple and cheap test to detect the Smith-Lemli-Opitz syndrome rapidly in clinical laboratories

Keywords : Smith-Lemli-Opitz syndrome; 7-dehidrocholesterol; cholesterol oxidase; enzymatic assays; ultraviolet epectrometry.