Orphanet_79095 (Congenital bile acid synthesis defect type 4) (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. Also known as: 2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy.