CONGENITAL ABSENCE OF BETA-LIPOPROTEINS

Abstract

From the two cases reported and a review of the literature, we conclude that congenital absence of beta-lipoproteins is an inborn eror of metabolism The outstanding features are a celiac syndrome with severe impairment of fat absorption, retardation of physical and mental growth, neurological ataxia, atypical retinitis pigmentosa, acanthocytosis, and finally, absence of beta-lipoproteins, depletion of alpha-lipoproteins, and a very low level of blood cholesterol, phospholipid, and total lipids. The condition manifests itself in homozygotes as a mutant autosomic gene. Heterozygotes could not be detected in either case.