Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference

American Journal of Medical Genetics
J M OPITZ, F de la Cruz


During the evolution of multicellularity and attendant processes of development, cholesterol played a key role in the formation of the plasma membrane and outer mitochondrial membrane of every cell in the organism. Later functions include pivotal involvement in steroid, bile acid, and vitamin D metabolism and myelination of the nervous system. In the CNS myelination does not begin until the third trimester, and subcortical myelination not until after birth. The cholesterol of the cell membrane of the ovum is maternally derived. It is not known when the zygote begins making its own cholesterol during morphogenesis and histogenesis, but it must occur early to keep up with the dramatic rate of cell division in the embryo. Thus, it is a startling surprise that human embryos and fetuses apparently able to synthesize little cholesterol (because of a presumed defect of the delta 5,7-sterol, delta 7-reductase that converts 7-dehydrocholesterol (7-DHC) into cholesterol) frequently live to term and, rarely, may be so mildly affected as to attend school with only mild MR. The discovery by G. Stephen Tint and his co-workers of the apparent 7-DHC reductase deficiency makes the RSH (Smith-Lemli-Opitz) syndrome the first true metabolic malfor...Continue Reading


Jun 1, 1966·American Journal of Obstetrics and Gynecology·J G Green
Jan 3, 1980·The New England Journal of Medicine·R A Cooper, S J Shattil
Jan 1, 1980·American Journal of Medical Genetics·R B Lowry, S L Yong
May 1, 1994·American Journal of Medical Genetics·J M OPITZV L Smith
May 1, 1994·American Journal of Medical Genetics·M R Natowicz, J E Evans
May 1, 1994·American Journal of Medical Genetics·N A NwokoroJ J Mulvihill
Feb 1, 1964·The Journal of Pediatrics·D W SMITHJ M OPITZ


Jan 31, 1997·American Journal of Medical Genetics·Richard Kelley
Dec 9, 2003·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·H Waage-BaudetK K Sulik
Nov 13, 2004·The Journal of Nutritional Biochemistry·G Wolf
Aug 14, 2003·Annals of Human Genetics·P E JiraR A Wevers
Nov 10, 2001·Annual Review of Genomics and Human Genetics·Richard Kelley, G E Herman
Aug 1, 1996·European Journal of Pediatrics·V Cormier-DaireC Roux
Oct 13, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·J M OPITZ, Larissa V Furtado
Apr 2, 1998·The Journal of Laboratory and Clinical Medicine·M Kolf-ClauwC Ponsart
Jul 31, 1998·American Journal of Human Genetics·H R WaterhamR J Wanders
Jul 31, 1998·American Journal of Human Genetics·Richard Kelley
May 3, 2005·Brain Research. Developmental Brain Research·Hongwei YuShailendra B Patel
Jan 14, 2009·Laboratory Investigation; a Journal of Technical Methods and Pathology·Hua MaoYin-Xiong Li
Mar 10, 2001·Human Mutation·M Witsch-BaumgartnerG Utermann
Feb 13, 2001·Developmental Dynamics : an Official Publication of the American Association of Anatomists·F GofflotJ J Picard
Nov 29, 2002·American Journal of Medical Genetics·Hans C AnderssonRichard Kelley
Feb 25, 1998·American Journal of Medical Genetics·G de JongL M Muller
May 10, 2008·Journal of Neurochemistry·Marta Olivera Santa-CatalinaMaría Julia Bragado
May 17, 1996·American Journal of Medical Genetics·A FiumaraL Pavone
Apr 10, 1995·American Journal of Medical Genetics·J M McGaughranD Donnai
Apr 10, 1995·American Journal of Medical Genetics·G PierquinN Van Regemorter
Apr 10, 1995·American Journal of Medical Genetics·P T Clayton, N Mian
Nov 11, 2005·Developmental Neuroscience·H Waage-BaudetK K Sulik
Mar 8, 2013·Update : the Applications of Research in Music Education·Feilin Hsiao, Kate Gfeller
Aug 10, 1999·Current Opinion in Pediatrics·J M OPITZ

Related Concepts

7-dehydrocholesterol, (3beta,9beta,10alpha)-isomer
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