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Inborn disorder of bile acid synthesis

MONDO:0019218

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.

Also known as: Bile Acid Synthesis Disorders, inborn bile acid biosynthetic process disorder, inborn error of bile acid biosynthetic process, rare inborn error of bile acid biosynthetic process, disorder of bile acid synthesis, inborn errors of bile acid synthesis

12 clinical trials for this condition and its sub-types.

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Sub-types

Cerebrotendinous xanthomatosis (6) Idiopathic malabsorption due to bile acid synthesis defects (4) Bile acid CoA ligase deficiency and defective amidation (0) Hypercholanemia, familial (0) Hypercholanemia, familial 1 (0) Hypercholanemia, familial, 2 (0) Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (0)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Steroid metabolism disease (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 3 Not yet recruiting 1 Not yet finished but already full! 5 Completed 2 Terminated 1
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