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，可导致先天性畸形、严重发育不良和严重的精神发育迟滞。我们最近描述了SLOS患者在胆固醇产生的倒数第二步的胆固醇生物合成缺陷，导致胆固醇水平显著降低和异常胆固醇前体的积累，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.