ABNORMAL BILE-ACIDS IN THE SMITH-LEMLI-OPITZ SYNDROME

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 sp ecies postulated to be cholenoates and cholestenoates. The finding of abnormal urinary bile acids in children with SLO syndrome led to furth er investigation of the cholesterol metabolic pathway and to the delin eation of a new inborn error of metabolism, deficient conversion of 7- dehydrocholesterol to cholesterol Irons et al., 1993. The abnormalit ies of urinary bile acids, if confirmed by further structural analyses and studies of additional patients, provide an explanation for variou s aspects of the gastrointestinal abnormalities and growth retardation noted in SLO syndrome and suggest that exogenous bile acid replacemen t may play an important role in the therapy of patients with this synd rome. (C) 1994 Wiley-Liss, Inc.