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Inborn disorder of bile acid synthesis
rareAnomalies 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.
- Identifiers
- MONDO:0019218 Orphanet:79168
- Part of
- Sterol metabolism disorder
- Also known as
- Bile Acid Synthesis Disorders · inborn bile acid biosynthetic process disorder · inborn error of bile acid biosynthetic process · inborn errors of bile acid synthesis · rare inborn error of bile acid biosynthetic process
Subtypes
Disease Rare Not rare Subtypes
- Hypercholanemia, familial MONDO:0100327 2
- Bile acid CoA ligase deficiency and defective amidation MONDO:0017165
- Cerebrotendinous xanthomatosis MONDO:0008948 CYP27A1
- Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0016203
- Idiopathic malabsorption due to bile acid synthesis defects MONDO:0019393
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