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Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

1994; Wiley; Volume: 50; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320500409

1096-8628

Mira Irons, Ellen Roy Elias, G S Tint, Gerald Salen, Roger Frieden, Timothy Buie, Mary G. Ampola,

Lipid metabolism and disorders

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well.