THERAPY OF CHOLESTEROL DEFECT IN SMITH LEMLI OPITZ SYNDROME

SML综合征是一种常染色体隐性遗传病，可导致先天性 异常，严重不能茁壮成长，精神严重受损 智力迟缓。我们最近描述了一种胆固醇缺陷 系统性红斑狼疮患者胆固醇倒数第二步的生物合成 产生，导致胆固醇水平和积聚显著降低 异常的胆固醇前体，特别是7-脱氢胆固醇(7- DHC)。这是一种新发现的人类新陈代谢错误。

SML Syndrome is an autosomal recessive disorder which causes congenital abnormalities, severe failure to thrive, and significant mental retardation. We have recently described a defect in cholesterol biosynthesis in patients with SLOS at the penultimate step in cholesterol production, causing markedly reduced cholesterol levels and accumulation of abnormal cholesterol precursors, particularly 7-dehydrocholesterol (7- DHC). This is a newly described metabolic error in humans.