Congenital β-lipoprotein deficiency

There are several degrees of β-lipoprotein deficiency. If there is no β-lipoprotein present, or if there are only traces of it, the Bassen-Kornzweig syndrome develops. A constant feature of this syndrome is disturbed fat absorption with accumulation of fat in the epithelium of intestinal mucosa and acanthocytosis; ultimately neuropathies, and usually disturbances of the ocular fundus, develop. If there is still about 10 to 20 per cent β-lipoprotein present, steatorrhoea, fat accumulation in the epithelium of the intestinal mucosa, neurologic disturbances and acanthocytosis are absent. The changes in the lipids and fatty acid patterns in plasma and red blood cells are the same as those present in the absence of β-lipoproteins. We found that after consumption of food containing much linoleic acid, the linoleic acid content of the erythrocytes, and of the serum cholesterol esters, phospholipids and triglycerides, increased considerably. β-Lipoprotein deficiency is a hereditary disease; probably an autosomal recessive gene is involved