Congenital bile acid synthesis defect 4

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

Also known as: AMACR deficiency, 2-methylacyl-CoA racemase deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BAS defect type 4, BASD4, CBAS4, bile acid synthesis defect, congenital, type 4, congenital bile acid synthesis defect 4

1 clinical trial for this condition and its sub-types, 0 tagged with Congenital bile acid synthesis defect 4 itself.