AKR1D1 and cirrhosis of liver: Therefore, genetic screening for AKR1D1 mutations in clinically suspected patients is crucial for making an accurate diagnosis and early intervention.[1–9] Furthermore, the replacement therapies by various types of cholic acids have been reported to effectively maintain liver function and prevent liver cirrhosis and the need for transplantation.[5–7,10] Here, we report three cases of congenital congenital bile acid synthesis defect type 2 due to mutations in AKR1D1.