[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: Katalin Koczok, Anna V Oláh, Gabriella P Szabó, Éva Oláh, Olga Török, István Balogh
• Journal: Orvosi hetilap (Orv Hetil) Vol. 156 Issue 42 Pg. 1695-702 (Oct 18 2015) ISSN: 0030-6002 [Print] Hungary
• Vernacular Title: A koleszterin-bioszintézis veleszületett zavara: a Smith-Lemli-Opitz-szindróma.
• PMID: 26551309 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Dehydrocholesterols
• Hydroxymethylglutaryl-CoA Reductase Inhibitors
• Cholesterol
• 7-dehydrocholesterol
• Oxidoreductases Acting on CH-CH Group Donors
• 7-dehydrocholesterol reductase

Topics

• Cholesterol (administration & dosage, biosynthesis, blood)
• Clinical Trials as Topic
• Congenital Abnormalities (diagnosis)
• Dehydrocholesterols (metabolism)
• Genetic Counseling
• Genotype
• Humans
• Hungary (epidemiology)
• Hydroxymethylglutaryl-CoA Reductase Inhibitors (therapeutic use)
• Oxidoreductases Acting on CH-CH Group Donors (deficiency)
• Prenatal Diagnosis
• Severity of Illness Index
• Smith-Lemli-Opitz Syndrome (blood, diagnosis, drug therapy, epidemiology, genetics)
• Syndactyly
• Treatment Failure