AMACR deficiency2-methylacyl-CoA racemase deficiencyAlpha-methyl-acyl-CoA racemase deficiencyBAS defect type 4BASD4CBAS4bile acid synthesis defect, congenital, type 4congenital bile acid synthesis defect 4congenital bile acid synthesis defect type 4intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acidliver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrometrihydroxycoprostanic acid in bileTrihydroxycoprostanic acid in bileTrihydroxycoprostanic acid to cholic acidbile acid synthesis defect, congenital, 4cholestasis, intrahepatic, with defective conversion ofcholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid
Definition
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
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