familial hypercholanemia 2

A steroid inherited metabolic disorder characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC10A1 gene on chromosome 14q24.

Signs and symptoms

• Decreased circulating vitamin D concentration
• Increased serum bile acid concentration
• Prolonged neonatal jaundice
• Osteopenia
• Unconjugated hyperbilirubinemia