ABSTRACT
One of the lipoprotein disorders. The characteristic lack of apoB lipoprotein is due to a mutation in the code for a microsomal triglyceride transfer protein that is essential for apoB lipoprotein translocation to the surface of the enterocyte and subsequent synthesis of the intestinal chylomicrons (see lipoprotein disorders). It is characterized by a complete lack of apoB-containing lipoproteins. It is associated with the clinical symptoms of lipid malabsorption, acanthocytes, retinitis pigmentosis, and muscular neuropathies. Some of the clinical features of this disorder may be due to the malabsorption of the fat-soluble vitamins, notably vitamin A. This is a rare disorder inherited as an autosomal recessive trait.
