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Kinder- und Jugendmedizin 2005; 5(04): 178-182
DOI: 10.1055/s-0037-1617867
Endokrinologie
Schattauer GmbH

Das Smith-Lemli-Opitz-Syndrom

The Smith-Lemli-Opitz-Syndrome
Johannes F. W. Weigel
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
,
Wieland Kiess
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
,
Manuela Schulz
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
,
Sabine Liebermann
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
,
Roland W. Pfäffle
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
,
Peter Bührdel
1   Universitätsklinik und Poliklinik für Kinder und Jugendliche Leipzig (Direktor: Prof. Dr. med. W. Kiess)
› Author Affiliations
Further Information

Publication History

Eingegangen: 11 March 2005

angenommen: 13 May 2005

Publication Date:
11 January 2018 (online)

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Zusammenfassung

Das Smith-Lemli-Opitz-Syndrom wird durch einen Defekt des letzten Schrittes der Cholesterolbiosynthese, den Mangel an 7-Dehydrocholesterolreduktase, verursacht. Die Akkumulation der Metaboliten 7-Dehydrocholesterol und 8-Dehydrocholesterol, die die wichtigsten biochemischen Marker für die Diagnose der Erkrankung darstellen, sowie der Mangel an Cholesterol können zu multiplen kongenitalen Anomalien führen. Die Ursache des Enzymmangels sind Mutationen innerhalb des DHCR7-Gens, welches auf Chromosom 11q13 lokalisiert ist. Therapeutische Möglichkeiten bestehen in der Gabe von Cholesterol und im Notfall Fresh Frozen Plasma (FFP); der therapeutische Nutzen von Statinen befindet sich zurzeit in der klinischen Erprobung.

Summary

The Smith-Lemli-Opitz-Syndrome is caused by a deficiency of the enzyme 7-dehydrocholesterolreductase which katalyses the last step of the cholesterol biosynthesis. The accumulation of the metabolites 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol and in addition the lack of cholesterol may lead to multiple inborn anomalies. Serum levels of 7-DHC and 8-DHC are also the most important biochemical markers for the correct diagnosis. The deficiency of 7-dehydrocholesterolreductase is caused by mutations of the DHCR7-gene, which is localized on chromosome 11q13. The therapeutic concept is based on supplementation of dietary cholesterol. Under emergency situations treatment with fresh frozen plasma (FFP) should be considered. Current clinical trials have to prove the therapeutic effect of statines.

Schlüsselwörter

SLO - Smith-Lemli-Opitz-Syndrom - DHCR7-Gen - 7DHC - 7-Dehydrocholesterolreduktase

Keywords

SLO - Smith-Lemli-Opitz-Syndrome - DHCR7 gene - 7DHC - 7-dehydrocholesterolreductase
 

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