Xavier-Philippe Aers

Background: Abetalipoproteinemia is a rare, autosomal recessive disorder that requires mutations in both alleles of the gene for microsomal triglyceride transfer protein (MTTP). The mutations cause improper packaging and secretion of lipoprotein particles that contain apolipoprotein B from enterocytes and hepatocytes. These abnormalities lead to intracellular lipid retention and reductions in plasma levels of chylomicrons and very-low-density lipoprotein.