Das Smith-Lemli-Opitz-Syndrom

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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