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

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。Smith-Lemli-Opitz综合征是一种复杂的常染色体隐性遗传病，由胆固醇途径的代谢错误引起。SLOS患者存在胆固醇缺乏，这会导致无数的代谢/内科并发症。患者还会积聚胆固醇前体7-脱氢胆固醇，这会导致肝脏疾病和白内障。开发这项研究方案是为了评估补充胆固醇对SLOS患者的影响和益处，包括提高胆固醇水平和降低前体水平，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.