TREATMENT OF THE CHOLESTEROL DEFECT IN SMITH-LEMLI OPITZ SYNDROME

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。患有Smith-Lemli-Opitz(SLO)综合征的儿童患有严重的胆固醇缺乏症，这是由胆固醇合成途径中的先天代谢错误引起的。SLO儿童有多种出生缺陷和复杂的医疗问题，包括严重的生长障碍、智力低下、内分泌、皮肤病、血液病和行为问题。该方案包括以浓缩悬浮液的形式给予纯胆固醇，以努力提高胆固醇水平，并降低前体7-脱氢胆固醇的积累。胆固醇是通过肠道给药的(po或pg)。胆固醇缺乏会对多个器官系统产生影响。按方案治疗的患者将接受跟踪，以确定胆固醇治疗是否影响生长、发育、行为、血液学、皮肤病和内分泌状态。

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. Children with Smith-Lemli-Opitz (SLO) Syndrome have a severe cholesterol deficiency, caused by an inborn error of metabolism in the cholesterol synthetic pathway. Children with SLO have multiple birth defects and complex medical problems including severe growth failure, mental retardation, endocrine, dermatologic, hematologic, and behavioral problems. This protocol involves giving pure cholesterol in the form of a concentrated suspension, in an effort to raise cholesterol levels, and lower accumulation of the precurson, 7-dehydrocholesterol. The cholesterol is administered enterally (po or pg). Cholesterol deficiency has effects on multiple organ systems. Patients on protocol will be followed to determine if cholesterol treatment effects growth, development, behavior, hematologic, dermatologic and endocrine status.