/inborn disorder of bile acid synthesis

inborn disorder of bile acid synthesis

Rare Disease

MONDO:0019218

Also Known As

Bile Acid Synthesis Disordersinborn bile acid biosynthetic process disorderinborn error of bile acid biosynthetic processrare inborn error of bile acid biosynthetic processdisorder of bile acid synthesisinborn errors of bile acid synthesis

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.