Conditions / Genetic

familial hypobetalipoproteinemia 1

info · Genetic

A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24.

Signs and symptoms

  • Elevated circulating aspartate aminotransferase concentration
  • Decreased circulating LDL-C concentration
  • Decreased circulating HDL-C concentration
  • Hypocholesterolemia
  • Steatorrhea
  • Elevated circulating alanine aminotransferase concentration
  • Decreased circulating vitamin E concentration
  • Acanthocytosis
  • Reduced circulating vitamin A concentration
  • Ataxia

Also known as: FHBL1