Het Smith-Lemli-Opitz syndroom: een stoornis in de cholesterol biosynthese

oorzaakt door een blok in de laatste stap van de cholesterol biosynthese, de omzetting van 7-dehydrocholesterol naar cholesterol. SLO-patienten hebben een sterk verlaagde 7-dehydrocholesterol-∆7-reductase activiteit resulterend in lage plasmaen weefsel cholesterolconcentraties met hoge concentraties 7-dehydrocholesterol. Kenmerkende fenotypische afwijkingen zijn mentale retardatie, een afwijkend karakteristiek gelaat, orgaan-, geslachts-, en extremiteitsafwijkingen. De diagnose wordt bij SLO patienten gesteld door middel van gaschromatografische sterolanalyse van het plasma. In sommige gevallen kan een laag plasma cholesterolgehalte al richtinggevend zijn al sluit een laagnormaal cholesterolgehalte de diagnose niet uit. Prenatale diagnostiek in vruchtwater en chorion villi is mogelijk. Methoden om ∆7-reductase enzymactiviteit en de cholesterolbiosynthese snelheid vanuit gelabeld acetaat te meten in gekweekte fibroblasten zijn ontwikkeld. Daarnaast worden in dit artikel pathofysiologische aspecten en behandelingsmogelijkheden van het SLOS besproken.

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