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IDENTIFICATION OF A BIOMARKER IN CARRIERS OF THE SMITH-LEMLI-OPITZ SYNDROME

IDENTIFICATION OF A BIOMARKER IN CARRIERS OF THE SMITH-LEMLI-OPITZ SYNDROME
史密斯-莱姆利-奥皮兹综合征携带者生物标志物的鉴定
批准号：
6116961
负责人：
WILLIAM E CONNOR
金额：
$3.13万
依托单位：
OREGON HEALTH & SCIENCE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6116961
关键词：
biomarker blood chemistry cholesterol clinical research diet therapy dietary constituent genetic carriers human subject hypocholesterolemia nutrition related tag steroid biosynthesis

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英文摘要
Patients with the Smith-Lemli-Opitz syndrome have a cholesterol deficiency because there is a block in the synthesis of cholesterol. Clinically, they have microcephaly, mental retardation and hypotonicity, along with very low plasma cholesterol levels and high plasma concentrations of 7- dehydrocholesterol This study will attempt to identify a biomarker for the carrier state in parents of Smith-Lemli-Opitz patients by stimulating cholesterol biosynthesis by feeding a cholesterol-free diet and administering bile acid binding resins.
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