Alpha beta lipoproteinemia

Alpha beta lipoproteinemia (ABL) is an autosomal recessive inherited inborn error of lipoprotein metabolism. This disease is caused by mutation in a subunit of the microsomal trygliceride transfer protein. Clinical features are malabsorption, pigmentary degeneration of the retina and progressive loss of ability to control muscular movement (ataxic neuropathy). Red cells show a peculiar deformation called acanthocytosis. Total cholesterol is low (<70 mg/dL) but triglycerides, low-density and very low-density lipoproteins are almost undetectable.