Details of Disease
General Information of Disease (ID: DISUXA08)
| Disease Name | Inborn disorder of bile acid synthesis | |||||
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| Synonyms |
disorder of bile acid synthesis; inborn errors of bile acid synthesis; inborn bile acid biosynthetic process disorder; inborn error of bile acid biosynthetic process; rare inborn error of bile acid biosynthetic process
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| Definition |
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
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