title: [Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].
abstract: Smith-Lemli-Opitz syndrome is an autosomal recessive mental retardation and multiple malformation syndrome caused by deficiency of the 7-dehydrocholesterol reductase, the enzyme catalyzing the last step in cholesterol biosynthesis. The authors summarize the pathophysiology, epidemiology, clinical picture, diagnostics and therapy of the disease based on a review of the international literature. Since 2004, fourteen patients have been diagnosed with Smith-Lemli-Opitz syndrome in Hungary, which suggests an underdiagnosis of the disease based upon estimated incidence data. Due to deficiency of the 7-dehydrocholesterol reductase, serum cholesterol concentration is low and 7-dehydrocholesterol concentration is elevated in blood and tissues; the latter being highly specific for the syndrome. Detection of disease-causing mutations makes the prenatal diagnosis possible. The clinical spectrum is wide, the most common symptom is syndactyly of the second and third toes. Standard therapy is cholesterol supplementation. Recent publications suggest that oxidative compounds of 7-dehydrocholesterol may play a role in the pathophysiology of the disease as well.
authors.affiliation: Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
authors.forename: Katalin
authors.initials: K
authors.lastname: Koczok
authors.affiliation: Laboratóriumi Medicina Intézet, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen.
authors.forename: Anna
authors.initials: A
authors.lastname: V Oláh
authors.affiliation: Gyermekgyógyászati Intézet, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen.
authors.forename: Gabriella
authors.initials: G
authors.lastname: P Szabó
authors.affiliation: Gyermekgyógyászati Intézet, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen.
authors.forename: Éva
authors.initials: É
authors.lastname: Oláh
authors.affiliation: Szülészeti és Nőgyógyászati Klinika, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen.
authors.forename: Olga
authors.initials: O
authors.lastname: Török
authors.affiliation: Laboratóriumi Medicina Intézet, Klinikai Genetikai Tanszék, Debreceni Egyetem, Általános Orvostudományi Kar Debrecen, Nagyerdei krt. 98., 4032.
authors.forename: István
authors.initials: I
authors.lastname: Balogh
mesh_terms: D002784:Cholesterol / Q000008:administration & dosage* / Q000096:biosynthesis* / Q000097:blood; D002986:Clinical Trials as Topic; D000013:Congenital Abnormalities / Q000175:diagnosis; D003684:Dehydrocholesterols / Q000378:metabolism; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*; D011296:Prenatal Diagnosis; D012720:Severity of Illness Index; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics; D013576:Syndactyly; D017211:Treatment Failure
chemical_list: D003684:Dehydrocholesterols; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D002784:Cholesterol; C016705:7-dehydrocholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase
keywords: 7-dehidrokoleszterin; 7-dehidrokoleszterin-reduktáz; 7-dehydrocholesterol; 7-dehydrocholesterol-reductase; Smith–Lemli–Opitz syndrome; Smith–Lemli–Opitz-szindróma