Summary
Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*.
