Conditions / Genetic
congenital bile acid synthesis defect 5
info · Genetic
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
Signs and symptoms
- Iron deficiency anemia
- Hepatic failure
- Increased total iron binding capacity
- Hepatic fibrosis
- Hepatomegaly
- Increased serum bile acid concentration
- Portal fibrosis
- Portal hypertension
- Hyperbilirubinemia
- Elevated circulating hepatic transaminase concentration
Also known as: CBAS5