familial hypercholanemia 3

A steroid inherited metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the BAAT gene on chromosome 9q31.

Signs and symptoms

• Jaundice
• Elevated circulating aspartate aminotransferase concentration
• Elevated circulating alanine aminotransferase concentration
• Rickets
• Hepatic failure
• Conjugated hyperbilirubinemia
• Hepatomegaly