A rare metabolic disorder, which causes problems in synthesis of bile acids is known as Congenital Bile Acid Synthesis Defect. Bile Acid Synthesis Defect can be of two types- primary and secondary. Due to a congenital deficiency in enzymes involved in the synthesis of some bile acids, the primary defect takes place. Whereas the problems involved in the transportation of bile acids come under secondary Bile Acid Synthesis Defect.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
It can be life threatening, if it is left untreated.