One of the lipoprotein disorders. The characteristic lack of apoB lipoprotein is due to a mutation in the gene 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. This is a rare disorder inherited as an autosomal recessive trait. It is characterized by a complete lack of apoB-containing lipoproteins. It is associated with the clinical symptoms of lipid malabsorption, acanthocytes, retinitis pigmentosa, and myoneuropathy. In addition, clinical signs of fat-soluble vitamin deficiency may appear due to inadequate absorption of these vitamins.
Rare, inherited disorder of fat metabolism characterized by severe deficiency or total absence of beta- lipoproteins, abnormally low cholesterol levels, and the presence of abnormal red blood cells. Symptoms include malnutrition, growth retardation, degeneration of the retina, and progressive neurological dysfunction.
An inherited disorder marked by an absence of beta lipoproteins in the blood and low levels of cholesterol, fatty acids, and chylomicrons. The red blood cells have a thorny or spiked appearance (i.e., acanthocytosis). It is most often seen in Ashkenazi Jews. Symptoms include retinal macular degeneration and chronic progressive neurological deficits, which usually begin in childhood. Affected infants develop steatorrhea and growth retardation. Later clinical manifestations include ataxia; by adolescence, many patients are unable to walk. Vitamin E may be helpful in arresting the progression of neurological aspects.