CHOLESTEROL TREATMENT IN PATIENTS WITH THE SMITH-LEMLI-OPITZ SYNDROME (SLOS)

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。Smith-Lemli-Opitz综合征是一种复杂的常染色体隐性遗传病，由胆固醇途径中的代谢错误引起。sls患者有胆固醇缺乏，这导致了无数的代谢/医学并发症。患者还会积累胆固醇前体，7-脱氢胆固醇，这会导致肝脏疾病和白内障。本研究方案旨在通过提高胆固醇水平和降低前体水平来评估胆固醇补充对SLOS患者的影响和益处，并评估这种代谢变化如何影响这些患者的代谢/医学过程。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Smith-Lemli-Opitz syndrome is a complex autosomal recessive disorder caused by a metabolic error in the cholesterol pathway. Patients with SLOS have cholesterol deficiency which leads to a myriad of metabolic/medical complications. Patients also have accumulation of the cholesterol precursor, 7-dehydrocholesterol, which can cause liver disease and cataracts. This research protocol was developed to assess the effects and benefits of cholesterol supplementation in patients with SLOS, both by raising the cholesterol level and lowering the precursor level, and assessing how this metabolic change affects the metabolic/medical course of these patients.