congenital bile acid synthesis defect 4

A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation

A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.

Signs and symptoms

• Elevated circulating aspartate aminotransferase concentration
• Decreased serum bile acid concentration
• Hematochezia
• Hepatomegaly
• Giant cell hepatitis
• Decreased circulating vitamin E concentration
• Prolonged prothrombin time
• Hyperbilirubinemia
• Decreased circulating calcifediol concentration
• Prolonged partial thromboplastin time

Also known as: CBAS4; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; trihydroxycoprostanic acid in bile