TREATMENT OF THE CHOLESTEROL DEFECT IN SMITH-LEMLI OPITZ SYNDROME

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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 precursor, 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 affects growth, development, behavior, hematologic, dermatologic and endocrine status.