Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
Pursuit of a possible metabolic basis for an unrecognized pattern of multiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7-dehydrocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diagnosis of Smith-Lemli-Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress.
Nwokoro
N A
NA
Department of Human Genetics, University of Pittsburgh, PA 15261.
Hyde
B
B
Mulvihill
J J
JJ
D000015:Abnormalities, Multiple / Q000178:diet therapy / Q000378:metabolism*; D001647:Bile Acids and Salts / Q000652:urine; D002784:Cholesterol / Q000096:biosynthesis*; D002791:Cholesterol, Dietary / Q000627:therapeutic use*; D003684:Dehydrocholesterols / Q000097:blood; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000178:diet therapy / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000378:metabolism; D008831:Microcephaly; D013577:Syndrome
D001647:Bile Acids and Salts; D002791:Cholesterol, Dietary; D003684:Dehydrocholesterols; D002784:Cholesterol; C016705:7-dehydrocholesterol