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| Scalco,F.B.; Cruzes,V.M.; Vendramini,R.C.; Brunetti,I.L.; Moretti-Ferreira,D.. |
| Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Smith-Lemli-Opitz; 3ß-Hydroxysteroid-delta-7-reductase; Cholesterol; 7-Dehydrocholesterol; Ultraviolet spectrophotometry. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000008 |
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