congenital bile acid synthesis defect 3

info · Genetic

A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.

Signs and symptoms

Elevated circulating aspartate aminotransferase concentration
Hepatic failure
Hematochezia
Elevated circulating alkaline phosphatase concentration
Cirrhosis
Hepatomegaly
Hepatic bridging fibrosis
Elevated circulating alanine aminotransferase concentration
Acholic stools
Ductal bile plugs

Also known as: CBAS3; oxysterol 7-alpha-hydroxylase deficiency