Natowicz M R, Evans J E
Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254.
Am J Med Genet. 1994 May 1;50(4):364-7. doi: 10.1002/ajmg.1320500413.
The urinary bile acids from four patients with Smith-Lemli-Opitz (SLO) syndrome were analyzed by continuous flow fast atom bombardment mass spectrometry. Two types of abnormalities were noted: (1) a deficiency of normal bile acids (cholenoates) and (2) the presence of abnormal species postulated to be cholenoates and cholestenoates. The finding of abnormal urinary bile acids in children with SLO syndrome led to further investigation of the cholesterol metabolic pathway and to the delineation of a new inborn error of metabolism, deficient conversion of 7-dehydrocholesterol to cholesterol [Irons et al., 1993]. The abnormalities of urinary bile acids, if confirmed by further structural analyses and studies of additional patients, provide an explanation for various aspects of the gastro-intestinal abnormalities and growth retardation noted in SLO syndrome and suggest that exogenous bile acid replacement may play an important role in the therapy of patients with this syndrome.
采用连续流动快速原子轰击质谱法分析了4例史密斯-勒米-奥皮茨（SLO）综合征患者的尿胆汁酸。发现了两种异常情况：（1）正常胆汁酸（胆酸盐）缺乏；（2）存在推测为胆酸盐和胆甾烯酸盐的异常物质。在SLO综合征患儿中发现异常尿胆汁酸，促使对胆固醇代谢途径进行进一步研究，并确定了一种新的先天性代谢缺陷，即7-脱氢胆固醇向胆固醇的转化缺陷[艾恩斯等人，1993年]。如果通过进一步的结构分析和对更多患者的研究得到证实，尿胆汁酸异常可为SLO综合征中胃肠道异常和生长发育迟缓的各个方面提供解释，并表明外源性胆汁酸替代疗法可能在该综合征患者的治疗中发挥重要作用。
