Abnormal bile acids in the Smith-Lemli-Opitz syndrome

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / metabolism*
  • Abnormalities, Multiple / urine
  • Bile Acids and Salts / chemistry
  • Bile Acids and Salts / deficiency
  • Bile Acids and Salts / urine*
  • Cholenes / urine
  • Cholestenes / urine
  • Cholesterol / biosynthesis*
  • Dehydrocholesterols / blood
  • Face / abnormalities
  • Humans
  • Intellectual Disability / metabolism*
  • Intellectual Disability / urine
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Lipid Metabolism, Inborn Errors / urine
  • Microcephaly
  • Spectrometry, Mass, Fast Atom Bombardment
  • Syndrome


  • Bile Acids and Salts
  • Cholenes
  • Cholestenes
  • Dehydrocholesterols
  • Cholesterol
  • 7-dehydrocholesterol