Walsh & Hoyt: Disorders of Serum Lipoproteins

Abetalipoproteinemia, also called Bassen-Kornzweig disease, is an autosomal-recessive disorder. It is more common in Jewish populations but it occurs in all ethnic groups. The genetic locus is on chromosome 4q22-q28. This disease is associated with a functional deficiency in microsomal triglyceride transfer protein. This protein is responsible for the transport of triglyceride cholesterol ester and phospholipids across phospholipid membranes.