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Abnormal bile acids in the Smith-Lemli-Opitz syndrome
1Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254.
American Journal of Medical Genetics
|May 1, 1994
Summary
Urinary bile acid analysis in Smith-Lemli-Opitz (SLO) syndrome revealed deficiencies and abnormalities, suggesting a new inborn error in cholesterol metabolism. These findings may explain SLO symptoms and guide bile acid replacement therapy.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Smith-Lemli-Opitz (SLO) syndrome is a genetic disorder affecting cholesterol metabolism.
- Gastrointestinal abnormalities and growth retardation are common in SLO syndrome patients.
Purpose of the Study:
- To analyze urinary bile acids in patients with SLO syndrome.
- To investigate the underlying metabolic defects in SLO syndrome.
- To explore potential therapeutic strategies for SLO syndrome.
Main Methods:
- Continuous flow fast atom bombardment mass spectrometry was used to analyze urinary bile acids.
- Four patients diagnosed with SLO syndrome were included in the study.
Main Results:
- Abnormalities in urinary bile acid profiles were identified, including a deficiency of normal bile acids (cholenoates).
- The presence of abnormal bile acid species, potentially cholenoates and cholestenoates, was detected.
- These findings led to the identification of a deficiency in converting 7-dehydrocholesterol to cholesterol, a new inborn error of metabolism.
Conclusions:
- Abnormal urinary bile acids in SLO syndrome provide insights into the disease's pathophysiology.
- The identified metabolic defect offers an explanation for clinical manifestations like gastrointestinal issues and growth retardation.
- Exogenous bile acid replacement therapy is suggested as a potential treatment for SLO syndrome.