title: Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
abstract: 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.
authors.affiliation: Department of Pediatrics, New England Medical Center, Tufts University School of Medicine, Boston, Massachusetts 02111.
authors.forename: M
authors.initials: M
authors.lastname: Irons
authors.forename: E R
authors.initials: ER
authors.lastname: Elias
authors.forename: G S
authors.initials: GS
authors.lastname: Tint
authors.forename: G
authors.initials: G
authors.lastname: Salen
authors.forename: R
authors.initials: R
authors.lastname: Frieden
authors.forename: T M
authors.initials: TM
authors.lastname: Buie
authors.forename: M
authors.initials: M
authors.lastname: Ampola
mesh_terms: D000015:Abnormalities, Multiple / Q000178:diet therapy / Q000378:metabolism*; D000293:Adolescent; D001647:Bile Acids and Salts / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis*; D002791:Cholesterol, Dietary / Q000627:therapeutic use; D003684:Dehydrocholesterols / Q000097:blood; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000178:diet therapy / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000178:diet therapy / Q000378:metabolism*; D008297:Male; D008831:Microcephaly; D010088:Oxidoreductases / Q000172:deficiency; D044925:Oxidoreductases Acting on CH-CH Group Donors; D013261:Sterols / Q000097:blood; D013577:Syndrome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
chemical_list: D001647:Bile Acids and Salts; D002791:Cholesterol, Dietary; D003684:Dehydrocholesterols; D013261:Sterols; D014580:Ursodeoxycholic Acid; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase