Congenital bile acid synthesis defect 4
Congenital bile acid synthesis defect 4
Definition
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Also known as 2-methylacyl-CoA racemase deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BAS defect type 4, BASD4, bile acid synthesis defect, congenital, type 4, CBAS4, congenital bile acid synthesis defect 4, congenital bile acid synthesis defect type 4, liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome — per MONDO