title: Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
abstract: Since the discovery in 1993 that Smith-Lemli-Opitz syndrome (SLOS) is a disorder of cholesterol biosynthesis, human disorders associated with additional enzymes involved in the conversion of lanosterol to cholesterol have been identified. This review will focus primarily on the clinical aspects of these disorders, highlighting newly described syndromes, such as SC4MOL deficiency and CK syndrome. We will also provide clinical descriptions of additional cases for extremely rare disorders, such as desmosterolosis. We will compare and contrast the findings with those found in SLOS and briefly discuss possible mechanisms of disease pathogenesis.
authors.affiliation: Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, 700 Children's Dr. Rm W403, Columbus, OH 43205, USA. gail.herman@nationwidechildrens.org
authors.forename: Gail E
authors.initials: GE
authors.lastname: Herman
authors.forename: Lisa
authors.initials: L
authors.lastname: Kratz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D006801:Humans; D007810:Lanosterol / Q000096:biosynthesis*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency / Q000235:genetics; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000503:physiopathology; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*
chemical_list: D007810:Lanosterol; D044925:Oxidoreductases Acting on CH-CH Group Donors